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PP-196. The derivative 22 syndrome: A case report
S96
Abstracts
Conclusion
PP-197. Swyer syndrome — Male or female?
The sSMC cannot be identified or characterized unambiguously by conventional banding cytogenetic alone. As they are too small to be considered for their chromosomal origin by traditional banding techniques, molecular cytogenetic techniques including array based comparative genomic hybridization are needed for their characterization prognostic evaluation and genetic counselling. Indeed sSMC are a major clinical problem, especially when detected prenatally during banding cytogenetic analysis and their origin could be difficult to identify, especially during pregnancy. The prognostic of patients depends, in fact, on the nature, the size of the marker, the hereditary character, and the parental origin of the marker.
Clara Machadoa, Angela Pereiraa, Matos Cruzb, Alexandra Cadilheb, Albina Silvaa, Almerinda Pereiraa a Neonatal Intensive Care Unit, Pediatrics Department, Braga Hospital, Braga, Portugal b Fetal Medicine Unit, Obstetrics Department, Braga Hospital, Braga, Portugal
doi:10.1016/j.earlhumdev.2010.09.250
PP-196. The derivative 22 syndrome: A case report Dimassi Sarraa, Mougou Soumayaa, Nouri Soniab, Elghezal Hatema, Saad Alia a Department of Cytogenetic and Reproductive Biology, Farhat Hached Hospital, Tunisia b Department of Neonatology, Farhat Hached Hospital, Tunisia Aim The translocation (11;22) is the most common recurrent nonRobertsonian constitutional translocation in humans that have been reported. Balanced carriers are at the risk of having offspring with the derivative 22 syndrome owing to 3:1 meiotic non-disjunction event. Clinical features of the der(22) syndrome include mental retardation, craniofacial abnormalities and congenital heart defects. Case presentation Here, we report a case of an 8 day old newborn boy whose was referred for polymalformatif association. A cytogenetic study was performed on R-banded chromosomes from cultured lymphocyte cells for the newborn and his parents. We also realised the fluorescence insitu hybridisation to characterize the chromosomal anomaly. Conclusion The patient had facial dysmorphism, hypospadias, without heart defects or other congenital malformations. The karyotype of the case showed a supernumerary aberrant chromosome. Whole probe paint of chromosomes 11 and 22, showed that the supernumerary chromosome derived from both chromosomes 11 and 22 as a result of 3:1 meiotic maternal mal segregation event. The karyotype of the mother, who had a history of 2 abortions during the first pregnancy trimester, showed a balanced translocation (11;22), with 11q23 and 22q11 breakpoints. The t(11;22)(q23;q11) is the most known recurrent, non-Robertsonian constitutional translocation in humans. The presence of common sequences in the chromosomes 11 and 22 at q23 and q11 respectively could explain the recurrence of this translocation. In general, (11;22) translocation carriers are phenotypically normal and are often identified after the birth of an abnormal offspring with an unbalanced form of the translocation or because a history of recurrent miscarriages as found in our case report.
doi:10.1016/j.earlhumdev.2010.09.251
Aim Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell have a female appearance. They generally have female external genitalia and normal uterus and Fallopian tubes, but no functional gonads (streak gonads). Its prevalence is about 1 in 30,000 births. Mutations in the SRY gene have been identified in 15–20% of cases. Mutations in NR5A1, DHH, WNT4 and NR0B1 genes have also been described. The type of inheritance depends on the gene involved. Case presentation Fetus, female, 1st child of young, unrelated, healthy parents. Risk for Down syndrome of 1/6 was detected in the first trimester ultrasonography. Prenatal karyotype 46XY. Delivery at 37 weeks + 5 days by cesarean section (pelvis). Apgar score 10/10. Adequate birth weight and height. At birth she presented with complete female external genitalia; no other abnormalities. Pelvic ultrasound: normal morphology of the uterus, ovaries not visualized. Hormonal study was normal (3 days old). Repeated postnatal karyotype confirmed: 46XY. Follow-up on neonatology consultation as outpatient. Uneventful neonatal period. Abdomino-pelvic MRI (3 months old): presence of uterus with normal dimensions and appearance, ovaries not clearly defined. Currently, she is 4 months old, with good growth and development. Maintains follow-up on neonatology consultation. Conclusion In most cases affected individuals are raised as females and usually are not diagnosed until puberty, when primary amenorrhea is evident. They usually need hormone replacement therapy. These women are infertile. The major risk is the development of gonadoblastoma (30% by age of 40 years) which can be avoided with surgical removal of streak gonads. doi:10.1016/j.earlhumdev.2010.09.252
PP-198. Isochromosome 18q: A cytogenetic study Dimassi Sarraa, Mougou Soumayaa, Yacoubi Taharb, Fkih Meriemc, Elghezal Hatema, Saad Alia a Department of Cytogenetic and Reproductive Biology, Farhat Hached Hospital, Tunisia b Department of Anatomopathology, Farhat Hached Hospital, Tunisia c Department of Gynecology and Obstetrics, Farhat Hached Hospital, Tunisia Aim Isochromosomes 18q are rare chromosomal anomaly. The phenotype is in the majority of cases described as very similar to trisomy 18 or Edward's syndrome and appears in the classical form with one centromere and two q arms as a result of a mirror duplication of two genetically identical arms.
Abstracts
Conclusion
PP-197. Swyer syndrome — Male or female?
The sSMC cannot be identified or characterized unambiguously by conventional banding cytogenetic alone. As they are too small to be considered for their chromosomal origin by traditional banding techniques, molecular cytogenetic techniques including array based comparative genomic hybridization are needed for their characterization prognostic evaluation and genetic counselling. Indeed sSMC are a major clinical problem, especially when detected prenatally during banding cytogenetic analysis and their origin could be difficult to identify, especially during pregnancy. The prognostic of patients depends, in fact, on the nature, the size of the marker, the hereditary character, and the parental origin of the marker.
Clara Machadoa, Angela Pereiraa, Matos Cruzb, Alexandra Cadilheb, Albina Silvaa, Almerinda Pereiraa a Neonatal Intensive Care Unit, Pediatrics Department, Braga Hospital, Braga, Portugal b Fetal Medicine Unit, Obstetrics Department, Braga Hospital, Braga, Portugal
doi:10.1016/j.earlhumdev.2010.09.250
PP-196. The derivative 22 syndrome: A case report Dimassi Sarraa, Mougou Soumayaa, Nouri Soniab, Elghezal Hatema, Saad Alia a Department of Cytogenetic and Reproductive Biology, Farhat Hached Hospital, Tunisia b Department of Neonatology, Farhat Hached Hospital, Tunisia Aim The translocation (11;22) is the most common recurrent nonRobertsonian constitutional translocation in humans that have been reported. Balanced carriers are at the risk of having offspring with the derivative 22 syndrome owing to 3:1 meiotic non-disjunction event. Clinical features of the der(22) syndrome include mental retardation, craniofacial abnormalities and congenital heart defects. Case presentation Here, we report a case of an 8 day old newborn boy whose was referred for polymalformatif association. A cytogenetic study was performed on R-banded chromosomes from cultured lymphocyte cells for the newborn and his parents. We also realised the fluorescence insitu hybridisation to characterize the chromosomal anomaly. Conclusion The patient had facial dysmorphism, hypospadias, without heart defects or other congenital malformations. The karyotype of the case showed a supernumerary aberrant chromosome. Whole probe paint of chromosomes 11 and 22, showed that the supernumerary chromosome derived from both chromosomes 11 and 22 as a result of 3:1 meiotic maternal mal segregation event. The karyotype of the mother, who had a history of 2 abortions during the first pregnancy trimester, showed a balanced translocation (11;22), with 11q23 and 22q11 breakpoints. The t(11;22)(q23;q11) is the most known recurrent, non-Robertsonian constitutional translocation in humans. The presence of common sequences in the chromosomes 11 and 22 at q23 and q11 respectively could explain the recurrence of this translocation. In general, (11;22) translocation carriers are phenotypically normal and are often identified after the birth of an abnormal offspring with an unbalanced form of the translocation or because a history of recurrent miscarriages as found in our case report.
doi:10.1016/j.earlhumdev.2010.09.251
Aim Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell have a female appearance. They generally have female external genitalia and normal uterus and Fallopian tubes, but no functional gonads (streak gonads). Its prevalence is about 1 in 30,000 births. Mutations in the SRY gene have been identified in 15–20% of cases. Mutations in NR5A1, DHH, WNT4 and NR0B1 genes have also been described. The type of inheritance depends on the gene involved. Case presentation Fetus, female, 1st child of young, unrelated, healthy parents. Risk for Down syndrome of 1/6 was detected in the first trimester ultrasonography. Prenatal karyotype 46XY. Delivery at 37 weeks + 5 days by cesarean section (pelvis). Apgar score 10/10. Adequate birth weight and height. At birth she presented with complete female external genitalia; no other abnormalities. Pelvic ultrasound: normal morphology of the uterus, ovaries not visualized. Hormonal study was normal (3 days old). Repeated postnatal karyotype confirmed: 46XY. Follow-up on neonatology consultation as outpatient. Uneventful neonatal period. Abdomino-pelvic MRI (3 months old): presence of uterus with normal dimensions and appearance, ovaries not clearly defined. Currently, she is 4 months old, with good growth and development. Maintains follow-up on neonatology consultation. Conclusion In most cases affected individuals are raised as females and usually are not diagnosed until puberty, when primary amenorrhea is evident. They usually need hormone replacement therapy. These women are infertile. The major risk is the development of gonadoblastoma (30% by age of 40 years) which can be avoided with surgical removal of streak gonads. doi:10.1016/j.earlhumdev.2010.09.252
PP-198. Isochromosome 18q: A cytogenetic study Dimassi Sarraa, Mougou Soumayaa, Yacoubi Taharb, Fkih Meriemc, Elghezal Hatema, Saad Alia a Department of Cytogenetic and Reproductive Biology, Farhat Hached Hospital, Tunisia b Department of Anatomopathology, Farhat Hached Hospital, Tunisia c Department of Gynecology and Obstetrics, Farhat Hached Hospital, Tunisia Aim Isochromosomes 18q are rare chromosomal anomaly. The phenotype is in the majority of cases described as very similar to trisomy 18 or Edward's syndrome and appears in the classical form with one centromere and two q arms as a result of a mirror duplication of two genetically identical arms.