- Email: [email protected]
Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome and a review of mosaic distal 5p deletion
Taiwanese Journal of Obstetrics & Gynecology 59 (2020) 334e337
Contents lists available at ScienceDirect
Taiwanese Journal of Obstetrics & Gynecology journal homepage: www.tjog-online.com
Case Report
Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome and a review of mosaic distal 5p deletion Chih-Ping Chen a, b, c, d, e, f, *, Liang-Kai Wang a, Schu-Rern Chern b, Peih-Shan Wu g, Shin-Wen Chen a, Fang-Tzu Wu a, Wen-Lin Chen a, Wayseen Wang b, h a
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan d School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan e Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan f Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan g Gene Biodesign Co. Ltd, Taipei, Taiwan h Department of Bioengineering, Tatung University, Taipei, Taiwan b c
a r t i c l e i n f o
a b s t r a c t
Article history: Accepted 27 November 2019
Objective: We present prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis with a favorable outcome, and we review the literature of mosaic distal 5p deletion. Case Report: A 35-year-old primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed the result of 46,XY,del(5)(p13)[1]/46,XY[19]. Among 20 colonies of cultured amniocytes, all four cells in one colony had a karyotype of 46,XY,del(5)(p13) with a distal deletion of 5p13/pter, while the rest 19 colonies had a karyotype of 46,XY. Repeat amniocentesis was performed at 21 weeks of gestation. Conventional cytogenetic analysis revealed a karyotype of 46,XY in all 20 colonies. Simultaneous array comparative genomic hybridization (aCGH) using the DNA extracted from the uncultured amniocytes revealed no genomic imbalance. Prenatal ultrasound findings were unremarkable. At 38 weeks of gestation, a 3621-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 46,XY. Postnatal urinary cells analysis by interphase fluorescence in situ hybridization (FISH) using a 5p terminal FISH probe detected no abnormal cell in the urine. Conclusion: Mosaicism for a distal 5p deletion in a single colony at amniocentesis can be associated with a favorable outcome. © 2020 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: Amniocentesis Distal 5p deletion Mosaicism
Introduction The Cri-du-Chat (5p-) syndrome (CdCS) [Online Mendelian Inheritance in Man (OMIM) 123450] is caused by a distal 5p deletion. The classic clinical findings of CdCS include a characteristic highpitched, monotonous cry, dysmorphic features of microcephaly,
* Corresponding author. Department of Obstetrics and Gynecology, MacKay Memorial Hospital 92, Section 2, Chung-Shan North Road, Taipei, Taiwan. Fax: þ886 2 25433642, þ886 2 25232448. E-mail address: [email protected] (C.-P. Chen).
hypertelorism, epicanthic folds and prominent nasal bridge, growth and developmental delay, hypotonia, and psychomotor and mental retardation [1e3]. The CdCS has an incidence of 1:20,000e1:50,000 live births and about 80% of the cases are caused by de novo deletions of paternal origin in 80e90% of the cases, while the rest are caused by familial rearrangements (12%), mosaicism (3%), ring chromosomes (2.4%) and de novo translocations (3%) [1e8]. Prenatal diagnosis of mosaic distal 5p deletion is very rare [1,6]. Here, we present prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome.
https://doi.org/10.1016/j.tjog.2020.01.028 1028-4559/© 2020 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http:// creativecommons.org/licenses/by-nc-nd/4.0/).
C.-P. Chen et al. / Taiwanese Journal of Obstetrics & Gynecology 59 (2020) 334e337
Case Report A 35-year-old primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed the result of 46,XY,del(5)(p13)[1]/46,XY[19]. Among 20 colonies of cultured amniocytes, all four cells in one colony had a karyotype of 46,XY,del(5)(p13) (Fig. 1) with a distal deletion of 5p13/pter, while the rest 19 colonies had a karyotype of 46,XY (Fig. 2). Repeat amniocentesis was performed at 21 weeks of gestation. Conventional cytogenetic analysis revealed a karyotype of 46,XY in all 20 colonies. Simultaneous array comparative genomic hybridization (aCGH) by SurePrint G3 Unrestricted CGH ISCA v2, 8 60 K Array (Agilent Technologies, Santa Clara, CA, USA) using the DNA extracted from the uncultured amniocytes revealed no genomic imbalance. Prenatal ultrasound findings were unremarkable. At 38 weeks of gestation, a 3621-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 46,XY in 40/40 cells. Postnatal urinary cells analysis using the interphase fluorescence in situ hybridization (FISH) probes of RP11-1005N9 (5p13.3) and RP11-347J20 (5q13.2) revealed no abnormal cell in 82/82 urinary cells (Fig. 3). Discussion Clinical reports concerning mosaic 5p deletion are uncommon [1,4,6,9e15]. Zellweger [9] first reported 44% mosaic 5p deletion in the blood of a 6-week-old female with typical CdCS. Philip et al. [10] reported 7% mosaic 5p deletion in a 33-year-old asymptomatic mother who had a CdCS fetus. Niebuhr [4] reported one patient with 15% mosaic 5p deletion in fibroblasts and typical CdCS;
335
another patient with 8% mosaic 5p deletion in blood and 4.6% mosaic 5p deletion in fibroblasts, and a normal phenotype; and the other patient with 58% mosaic 5p deletion in blood and 65% mosaic 5p deletion in fibroblasts and an atypical phenotype. Romano et al. [11] reported 25% mosaic 5p deletion in blood and 30% mosaic 5p deletion in fibroblasts of a 16-year-old male with mild mental retardation, ventricular septal defects (VSD), mild craniofacial CdCS features, and psychomotor and speech delay. Perfumo et al. [12] reported one 6-year-old female with 73% mosaic 5p deletion and 27% mosaic 5p duplication in blood, and clinical features of facial dysmorphism and severe speech delay; another 5-year-old female with 76% mosaic 5p deletion and 24% mosaic 5p duplication in blood with clinical features of craniofacial dysmorphism and high voice; and the other 12-year-old female with 78% mosaic del(5)(pter/p13) and 22% del(5)(pter/p14.3) in blood and classical CdCS phenotype, severe mental retardation and hyperactive behavior. Chen et al. [1] reported 50% mosaic 5p deletion in amniocytes in a fetus with microcephaly, cerebellar hypoplasia and facial dysmorphism. Chen et al. [6] reported 13% mosaic 5p deletion in amniocytes, 8.3% mosaicism in liver, 28.6% mosaicism in lungs, 6.7% mosaicism in skin and 38% mosaicism in cord blood in a fetus with mild facial dysmorphism. Kitsiou et al. [13] reported 19% mosaic 5p deletion and 8% mosaic 5p duplication in the blood of an 18-year-old male with mild developmental delay, peculiar facial features and slight ventriculomegaly. Moreira et al. [14] reported 38% mosaic 5p deletion in a 10-year-old female with a mild phenotype of CdCS, VSD, and vocal and cognitive disturbances. Murru et al. [15] reported a 5p deletion in 70% of the blood lymphocytes and a 5p deletion/duplication in 30% of the blood lymphocytes of a 7-year-old male with typical CdCS and microcephaly.
Fig. 1. A karyotype of 46,XY,del(5)(p13). The arrow indicates the breakpoint. del ¼ deletion.
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C.-P. Chen et al. / Taiwanese Journal of Obstetrics & Gynecology 59 (2020) 334e337
Fig. 2. A karyotype of 46,XY.
The review of the literature shows that patients with low-level mosaic 5p deletion and high-level normal cells can be associated with a mild phenotype. Our presentation additionally shows that mosaicism for a distal 5p deletion in a single colony at amniocentesis can be associated with a favorable outcome.
Declaration of Competing Interest The authors have no conflicts of interest relevant to this article.
Acknowledgements This work was supported by research grant MOST-107-2314-B195-005 from the Ministry of Science and Technology, Taiwan, and MMH-E-108-04 from MacKay Memorial Hospital, Taipei, Taiwan.
References
Fig. 3. Interphase fluorescence in situ hybridization analysis using the bacterial artificial chromosome probes of RP11-1005N9 [5p13.3; fluorescein isothiocyanate (FITC), spectrum green] and RP11-347J20 (5q13.2; Texas Red, spectrum red) shows a normal urinary cell with two green signals and two red signals.
[1] Chen C-P, Lee C-C, Chang T-Y, Town D-D, Wang W. Prenatal diagnosis of mosaic distal 5p deletion and review of the literature. Prenat Diagn 2004;24: 50e7. [2] Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis 2006;1:33. [3] Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ. 5p deletions: current knowledge and future directions. Am J Med Genet C Semin Med Genet 2015;169C:224e38. [4] Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics and clinical features. Hum Genet 1978;44:227e75. [5] Overhauser J, McMahon J, Oberlender S, Carlin ME, Niebuhr E, Wasmuth JJ, et al. Parental origin of chromosome 5 deletions in the cri-du-chat syndrome. Am J Med Genet 1990;37:83e6.
C.-P. Chen et al. / Taiwanese Journal of Obstetrics & Gynecology 59 (2020) 334e337 [6] Chen C-P, Lee C-C, Town D-D, Lee M-S, Wang W. Discrepancy between the fetus and extra-embryonic tissues in prenatally detected mosaic distal 5p deletion. Genet Couns 2004;15:473e6. [7] Chen C-P, Huang M-C, Chen Y-Y, Chern S-R, Wu P-S, Su J-W, et al. Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes. Gene 2013;524:407e11. [8] Chen C-P, Fu C-H, Chern S-R, Wu P-S, Su J-W, Lee C-C, et al. De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1/pter) and 14q (14q32.31/qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular cytogenetic characterization. Taiwan J Obstet Gynecol 2013;52:401e6. [9] Zellweger H. Cir-du-Chat with chromosomal mosaicism. Lancet 1966;288:57. [10] Philip J, Brandt NJ, Friis-Hansen B, Mikkelsen M, Tygstrup I. A deleted B chromosome in a mosaic mother and her cri du chat progeny. J Med Genet 1970;7:33e6.
337
[11] Romano C, Ragusa RM, Scillato F, Greco D, Amato G, Barletta C. Phenotypic and phoniatric findings in mosaic cri du chat syndrome. Am J Med Genet 1991;39: 391e5. [12] Perfumo C, Cerruti Mainardi P, Calí A, Coucourde G, Zara F, Cavani S, et al. The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J Med Genet 2000;37:967e72. [13] Kitsiou S, Kolialexi A, Mavrou A. Mosaic Cri du Chat syndrome in a patient exhibiting three 5p cell lines. Prenat Diagn 2004;24:578e9. [14] Moreira LMA, de Carvalho AFL, Borja ALVF, Pinto PSP, Silveira A, de Freitas LM, et al. Mosaic cri-du-chat syndrome in a girl with a mild phenotype. J Appl Genet 2008;49:415e20. [15] Murru D, Boccone L, Ristaldi MS, Nucaro AL. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype. Genet Couns 2008;19:381e6.
Contents lists available at ScienceDirect
Taiwanese Journal of Obstetrics & Gynecology journal homepage: www.tjog-online.com
Case Report
Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome and a review of mosaic distal 5p deletion Chih-Ping Chen a, b, c, d, e, f, *, Liang-Kai Wang a, Schu-Rern Chern b, Peih-Shan Wu g, Shin-Wen Chen a, Fang-Tzu Wu a, Wen-Lin Chen a, Wayseen Wang b, h a
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan Department of Biotechnology, Asia University, Taichung, Taiwan d School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan e Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan f Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan g Gene Biodesign Co. Ltd, Taipei, Taiwan h Department of Bioengineering, Tatung University, Taipei, Taiwan b c
a r t i c l e i n f o
a b s t r a c t
Article history: Accepted 27 November 2019
Objective: We present prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis with a favorable outcome, and we review the literature of mosaic distal 5p deletion. Case Report: A 35-year-old primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed the result of 46,XY,del(5)(p13)[1]/46,XY[19]. Among 20 colonies of cultured amniocytes, all four cells in one colony had a karyotype of 46,XY,del(5)(p13) with a distal deletion of 5p13/pter, while the rest 19 colonies had a karyotype of 46,XY. Repeat amniocentesis was performed at 21 weeks of gestation. Conventional cytogenetic analysis revealed a karyotype of 46,XY in all 20 colonies. Simultaneous array comparative genomic hybridization (aCGH) using the DNA extracted from the uncultured amniocytes revealed no genomic imbalance. Prenatal ultrasound findings were unremarkable. At 38 weeks of gestation, a 3621-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 46,XY. Postnatal urinary cells analysis by interphase fluorescence in situ hybridization (FISH) using a 5p terminal FISH probe detected no abnormal cell in the urine. Conclusion: Mosaicism for a distal 5p deletion in a single colony at amniocentesis can be associated with a favorable outcome. © 2020 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: Amniocentesis Distal 5p deletion Mosaicism
Introduction The Cri-du-Chat (5p-) syndrome (CdCS) [Online Mendelian Inheritance in Man (OMIM) 123450] is caused by a distal 5p deletion. The classic clinical findings of CdCS include a characteristic highpitched, monotonous cry, dysmorphic features of microcephaly,
* Corresponding author. Department of Obstetrics and Gynecology, MacKay Memorial Hospital 92, Section 2, Chung-Shan North Road, Taipei, Taiwan. Fax: þ886 2 25433642, þ886 2 25232448. E-mail address: [email protected] (C.-P. Chen).
hypertelorism, epicanthic folds and prominent nasal bridge, growth and developmental delay, hypotonia, and psychomotor and mental retardation [1e3]. The CdCS has an incidence of 1:20,000e1:50,000 live births and about 80% of the cases are caused by de novo deletions of paternal origin in 80e90% of the cases, while the rest are caused by familial rearrangements (12%), mosaicism (3%), ring chromosomes (2.4%) and de novo translocations (3%) [1e8]. Prenatal diagnosis of mosaic distal 5p deletion is very rare [1,6]. Here, we present prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome.
https://doi.org/10.1016/j.tjog.2020.01.028 1028-4559/© 2020 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http:// creativecommons.org/licenses/by-nc-nd/4.0/).
C.-P. Chen et al. / Taiwanese Journal of Obstetrics & Gynecology 59 (2020) 334e337
Case Report A 35-year-old primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed the result of 46,XY,del(5)(p13)[1]/46,XY[19]. Among 20 colonies of cultured amniocytes, all four cells in one colony had a karyotype of 46,XY,del(5)(p13) (Fig. 1) with a distal deletion of 5p13/pter, while the rest 19 colonies had a karyotype of 46,XY (Fig. 2). Repeat amniocentesis was performed at 21 weeks of gestation. Conventional cytogenetic analysis revealed a karyotype of 46,XY in all 20 colonies. Simultaneous array comparative genomic hybridization (aCGH) by SurePrint G3 Unrestricted CGH ISCA v2, 8 60 K Array (Agilent Technologies, Santa Clara, CA, USA) using the DNA extracted from the uncultured amniocytes revealed no genomic imbalance. Prenatal ultrasound findings were unremarkable. At 38 weeks of gestation, a 3621-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 46,XY in 40/40 cells. Postnatal urinary cells analysis using the interphase fluorescence in situ hybridization (FISH) probes of RP11-1005N9 (5p13.3) and RP11-347J20 (5q13.2) revealed no abnormal cell in 82/82 urinary cells (Fig. 3). Discussion Clinical reports concerning mosaic 5p deletion are uncommon [1,4,6,9e15]. Zellweger [9] first reported 44% mosaic 5p deletion in the blood of a 6-week-old female with typical CdCS. Philip et al. [10] reported 7% mosaic 5p deletion in a 33-year-old asymptomatic mother who had a CdCS fetus. Niebuhr [4] reported one patient with 15% mosaic 5p deletion in fibroblasts and typical CdCS;
335
another patient with 8% mosaic 5p deletion in blood and 4.6% mosaic 5p deletion in fibroblasts, and a normal phenotype; and the other patient with 58% mosaic 5p deletion in blood and 65% mosaic 5p deletion in fibroblasts and an atypical phenotype. Romano et al. [11] reported 25% mosaic 5p deletion in blood and 30% mosaic 5p deletion in fibroblasts of a 16-year-old male with mild mental retardation, ventricular septal defects (VSD), mild craniofacial CdCS features, and psychomotor and speech delay. Perfumo et al. [12] reported one 6-year-old female with 73% mosaic 5p deletion and 27% mosaic 5p duplication in blood, and clinical features of facial dysmorphism and severe speech delay; another 5-year-old female with 76% mosaic 5p deletion and 24% mosaic 5p duplication in blood with clinical features of craniofacial dysmorphism and high voice; and the other 12-year-old female with 78% mosaic del(5)(pter/p13) and 22% del(5)(pter/p14.3) in blood and classical CdCS phenotype, severe mental retardation and hyperactive behavior. Chen et al. [1] reported 50% mosaic 5p deletion in amniocytes in a fetus with microcephaly, cerebellar hypoplasia and facial dysmorphism. Chen et al. [6] reported 13% mosaic 5p deletion in amniocytes, 8.3% mosaicism in liver, 28.6% mosaicism in lungs, 6.7% mosaicism in skin and 38% mosaicism in cord blood in a fetus with mild facial dysmorphism. Kitsiou et al. [13] reported 19% mosaic 5p deletion and 8% mosaic 5p duplication in the blood of an 18-year-old male with mild developmental delay, peculiar facial features and slight ventriculomegaly. Moreira et al. [14] reported 38% mosaic 5p deletion in a 10-year-old female with a mild phenotype of CdCS, VSD, and vocal and cognitive disturbances. Murru et al. [15] reported a 5p deletion in 70% of the blood lymphocytes and a 5p deletion/duplication in 30% of the blood lymphocytes of a 7-year-old male with typical CdCS and microcephaly.
Fig. 1. A karyotype of 46,XY,del(5)(p13). The arrow indicates the breakpoint. del ¼ deletion.
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C.-P. Chen et al. / Taiwanese Journal of Obstetrics & Gynecology 59 (2020) 334e337
Fig. 2. A karyotype of 46,XY.
The review of the literature shows that patients with low-level mosaic 5p deletion and high-level normal cells can be associated with a mild phenotype. Our presentation additionally shows that mosaicism for a distal 5p deletion in a single colony at amniocentesis can be associated with a favorable outcome.
Declaration of Competing Interest The authors have no conflicts of interest relevant to this article.
Acknowledgements This work was supported by research grant MOST-107-2314-B195-005 from the Ministry of Science and Technology, Taiwan, and MMH-E-108-04 from MacKay Memorial Hospital, Taipei, Taiwan.
References
Fig. 3. Interphase fluorescence in situ hybridization analysis using the bacterial artificial chromosome probes of RP11-1005N9 [5p13.3; fluorescein isothiocyanate (FITC), spectrum green] and RP11-347J20 (5q13.2; Texas Red, spectrum red) shows a normal urinary cell with two green signals and two red signals.
[1] Chen C-P, Lee C-C, Chang T-Y, Town D-D, Wang W. Prenatal diagnosis of mosaic distal 5p deletion and review of the literature. Prenat Diagn 2004;24: 50e7. [2] Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis 2006;1:33. [3] Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ. 5p deletions: current knowledge and future directions. Am J Med Genet C Semin Med Genet 2015;169C:224e38. [4] Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics and clinical features. Hum Genet 1978;44:227e75. [5] Overhauser J, McMahon J, Oberlender S, Carlin ME, Niebuhr E, Wasmuth JJ, et al. Parental origin of chromosome 5 deletions in the cri-du-chat syndrome. Am J Med Genet 1990;37:83e6.
C.-P. Chen et al. / Taiwanese Journal of Obstetrics & Gynecology 59 (2020) 334e337 [6] Chen C-P, Lee C-C, Town D-D, Lee M-S, Wang W. Discrepancy between the fetus and extra-embryonic tissues in prenatally detected mosaic distal 5p deletion. Genet Couns 2004;15:473e6. [7] Chen C-P, Huang M-C, Chen Y-Y, Chern S-R, Wu P-S, Su J-W, et al. Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes. Gene 2013;524:407e11. [8] Chen C-P, Fu C-H, Chern S-R, Wu P-S, Su J-W, Lee C-C, et al. De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1/pter) and 14q (14q32.31/qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular cytogenetic characterization. Taiwan J Obstet Gynecol 2013;52:401e6. [9] Zellweger H. Cir-du-Chat with chromosomal mosaicism. Lancet 1966;288:57. [10] Philip J, Brandt NJ, Friis-Hansen B, Mikkelsen M, Tygstrup I. A deleted B chromosome in a mosaic mother and her cri du chat progeny. J Med Genet 1970;7:33e6.
337
[11] Romano C, Ragusa RM, Scillato F, Greco D, Amato G, Barletta C. Phenotypic and phoniatric findings in mosaic cri du chat syndrome. Am J Med Genet 1991;39: 391e5. [12] Perfumo C, Cerruti Mainardi P, Calí A, Coucourde G, Zara F, Cavani S, et al. The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J Med Genet 2000;37:967e72. [13] Kitsiou S, Kolialexi A, Mavrou A. Mosaic Cri du Chat syndrome in a patient exhibiting three 5p cell lines. Prenat Diagn 2004;24:578e9. [14] Moreira LMA, de Carvalho AFL, Borja ALVF, Pinto PSP, Silveira A, de Freitas LM, et al. Mosaic cri-du-chat syndrome in a girl with a mild phenotype. J Appl Genet 2008;49:415e20. [15] Murru D, Boccone L, Ristaldi MS, Nucaro AL. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype. Genet Couns 2008;19:381e6.