Partial trisomy 10q syndrome: Report of a case with new findings

Int. J. Gynaecol. Obstet., 1981, 19: 103-107

0 International

Federation of Gynaecology & Obstetrics

PARTIAL TRISOMY 1Oq SYNDROME REPORT OF A CASE WITH NEW FINDINGS WALDEMAR A. PALUTKEa, JOHN V. HARTLINEb, DONALD SCHAEFERb and NORMA R. GOHLEa aDepartment of Pathology, Wayne State University School Bronson Hospital, Kalamazoo, Michigan, USA

of Medicine,

Detroit, Michigan, and bDepartment

of Pediatrics,

(Received August 25th, 1980) (Accepted December lst, 1980)

Abstract

Case report

Palutke WA, Hartline JV, Schaefer D, Gohle NR (Dept of Pathology, Wayne State University, Detroit, Michigan and Dept of Pediatrics, Bronson Hospital, Kalamazoo, Michigan). Partial trisomy I Oq syndrome. Int J Gynaecol Obstet 19: 103-107, 1981 This report provides additional confirmatory data to current knowledge of the recently recognized partial trisomy I Oq syndrome and presents additional findings: a short umbilical cord, short big toes, and short sternum, which may prove to be part of the syndrome. Unlike most reported cases the breakpoint in the number 10 chromosome is at 10923.

The proposita was born after an uneventful 42-week gestation, to a 26-year-old mother and a 30-year-old father who were healthy and non-consanguineous. The mother had one previous pregnancy which spontaneously terminated early in the first trimester. The parents had experienced difficulty in conceiving and the father had oligospermia for which varicocele repair was performed. Examination of the placenta disclosed only some fibrin deposition between villi. The three vessel umbilical cord however, was only 25 cm in length. At delivery, the Apgar scores were 7 and 7. The child’s weight was 2070 g, length was 46 cm, and head circumference was 29.5 cm. All the measurements were more than two standard deviations below the mean at 42 weeks. The child had a feeble cry. Other significant findings on physical examination were: microphthalmia, small palpebral fissures, cleft palate, microglossia, micrognathia, short neck with a suggestion of webbing, short sternum, intermittent systolic murmur, long slender finders with crossing of the first and fourth fingers with the adjacent fingers, inturning of the fifth digit, rocker bottom feet with prominent calcanei, short first toe, hypotonia, microcephaly, flat and round face, arched and wide-spread eyebrows,

Key words: Trisomy trisomy 1Oq

Partial trisomy

Partial

Introduction

A case of partial trisomy 1Oq was first reported by Buhler et al. [ 21 as a partial trisomy 12 but was later properly reclassified [23] and now appears to represent a distinct clinical syndrome [ 251. It is characterized primarily by pathognomonic facial features, defects of hands, feet, trunk and viscera, and usually results from a familial balanced translocation [ 26 I.

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104 Palu tke et al.

X

6-12 c

14

13

E

Y

22

21

20

19 Fig. 1.

18

17

16

15

D

G

F G-banded karyotype of the proposita showing 46,XX,Zq+.

A

C

13

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15

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16

D

21

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19

G-banded karyotype of the father demonstrating

Int J Gynaecol Obstet 19

22’

G

F Fig. 2.

18

g

the balanced translocation

t(2;lO) (q37;q23).

I

Trisomy I09

2

a+

IO

105

IOq-

Schematic representation of the normal and Fig. 4. abnormal numbers 2 and 10 chromosomes according to the Paris Conference designations [ 161.

2

IO

Partial karyotypes Fig. 3. the breakpoint at lOq23.

of G-banded cells demonstrating

blepharophimosis, ptosis of eyelids, small nose and depressed nasal bridge, bow-shaped mouth with prominent upper lip, malformed and low-set ears, and possible mental deficiency (suspected on the basis of the neurologic examination and feeding difficulty). The child was tube fed at home. At 15 days of age, the child was readmitted to the hospital and died of pneumonia. Cytogenetic

studies

Cytogenetic studies were performed on peripheral blood lymphocytes according to conventional methods. G-banding studies were performed according to a modification of the procedure of Seabright [ 191. All cells contain 46 chromosomes. A number 2

chromosome is significantly longer than its normal homologue by virtue of extra material at the terminal portion of the long arm (Fig. 1). No other chromosome abnormalities were noted. Cytogenetic studies of the mother were normal but those of the father revealed a tranlocation from the long arm of the number 10 chromosome to the telomeric portion of the long arm of a number 2 chromosome. If there is a deletion of chromosome 2, it is not detected (Figs. 2 and 3). The breakpoint in the number 10 chromosome appears to be within the middle band of the long arm (1 Oq23), as evidenced by a consistent diminution in width of that band. Further support of this breakpoint lies in the fact that there are two extra bands at the terminus of the long arm of the number 2 chromosome. These correspond to the normal distal long arm band of chromosome 10 (1 Oq25) and a narrow band representing the translocated portion of the middle band (lOq23) (Fig. 4). The formal designation then, for this translocation is t(2;lO) (q37;q23). No other chromosomal abnormality was noted in the father. Members of the father’s family did not submit to cytogenetic studies. Int J Gynaecol Obstet I9

106 Palurke et al.

Discussion

Similar physical findings in the reported cases of partial trisomy lOq, now numbering over 20 [ 1,3-7,9-15,17,18,20-23,251 permit suspicion of the abnormality on clinical grounds [ 251. Physical findings frequently observed in partial trlsomy 1Oq syndrome [25] which were not present in this case include spacious forehead and antimongoloid slant. Findings not usually mentioned in partial trisomy 1Oq but present in this case include short sternum (a “small thorax” has been described 181) short first toe (although the first toe has been described as “hammer shaped” [ 141, and very short umbilical cord. The length of the cord (25 cm) was considerably less than average (55 cm) and less than the lower limit of normal (normal range 35-70 cm [241). The breakpoint in the long arm of chromosome 10 in this case (1 Oq23) is similar to that reported by Tsuchimoto and Biihler [23], patients 1 and 2, in contrast to the lOq24 breakpoint observed in most other patients. This different breakpoint (1 Oq23) causes translocation of slightly more long arm material and hence, a slightly greater degree of trisomy in the patient than in the majority previously reported. Whether this difference in degree accounted for the slight difference in manifestations compared to other cases is presently not known. It is unlikely that her early death can be attributed to the greater degree of trisomy since a patient with a similar degree has survived 10 years [ 231 and another with a lesser degree of trisomy died at approximately the same age as our patient [ 101. Since the number of reported cases of partial trisomy 1Oq syndrome is still small, further reports of similar, additional, or conflicting observations should continue, so as to more fully define the limits of the clinical syndrome and to determine the degree of consistency with which individual components of the syndrome occur. Special attention is drawn to the examination and recording of observations of the umbilical cord which seem Int J Gynaecol Obstet I9

to be a frequently neglected aspect of the overall examination, not only in this syndrome but generally. Obstetricians, being in a uniquely advantageous position to make such observations, could contribute greatly to our understanding of normal limits and disease associations by making a special effort to routinely inspect all umbilical cords at the time of delivery. Addendum

A subsequent pregnancy occurred 5 months after this birth. Amniocentesis performed at the University of Michigan disclosed a normal karyotype and a normal female baby was born at full term. Acknowledgement The’ authors wish to acknowledge the excellent technical assistance of Mr. Brian Derowski.

References Berger R, Derre J: Trisomie 1Oq partielle de novo. J Genet Hum 24: 261,1976. Biihler UK, Biihler EM, Sartorious J, Stalder GR: Multiple Missbildungen bei partieller Trisomie C(12) als Manifestation einer erblichen E/C(18/12) Translokation. Helv Paediatr Acta I: 41,1967. de Grouchy J, Finaz C, Roubin M, Roy J: Deux translocations familiales survenues ensemble chez chacune de deux soeurs, I’une equilibrie, l’autre trisom&e partielle 1Oq. Ann Genet 15: 85,1972. DutriBaux B, Laurent C, Robert JM, Lejeune J: Inversion pericentrique, inv(lO), chez la mere et aneusomie de recombinaison, inv(lO), rec(lO), chez son fils. Cytogenet Cell Genet 12: 245,1973. Forabosco A, Bernasconi S, Giovannelli G, DutriJlaux B: Trisomy of the distal third of the long arm of chromosome 10. Helv Paediatr Acta 30: 289, 1975. Fraisse J, Lauras B, La Selve A, Freycon F: Deux nouveaux cas de trisomie lOq24 + IOqter. Ann Genet 20: 128,1977. Franke U: Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet 24: 189,1972. Fryns JP, Logghe N, Van Eygen M, Van Den Berghe H:

Trisomy I Oq 101

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New chromosomal syndromes. Acta Paediatr Belg 32: 141,1979. Klepde Pater JM, Bijslma JB, deFrance HF, Leschot NJ, Duijndam-van den Berge M, van Hemel JO: Partial trisomy 1Oq. Hum Genet 46: 29,1979. Krdyer, S, Niebuhr E: Partial trisomy 1Oq occurring in a family with a reciprocal translocation t(10;18) (q25;23). Ann Genet 18: 50,1975. Laca Z, Kalicanin P: A case of partial trisomy 1Oq. J Ment Defic Res 18: 285,1974. Laurent C, Bovier-Lapierre M, Dutrillaux B: Trisomie 10 partielle par translocation familiale t(l;lO) (q44;q22). Hum Genet 18: 321,1973. Moreno-Fuenmayor H, Zackai E, Mellman W, Aronson M: Familial partial trisomy of the long arm of chromosome 10 (q24-26). Pediatrics 56: 756,1975. Mulcahy M, Jenkyn J, Masters PL: A familial lo/13 translocation: partial trisomy C in an infant associated with familial lo/13 translocation. Clin Genet 6: 335, 1974. Orye E, Verhaaren H, Samuel K, van Mele B: A 46,XX,lOq+ chromosome constitution in a girl. Partial long arm duplication or insertional translocation? Hum Genet 28: 1, 1975. Paris Conference (1971): Standardization in Human Cytogenetics. Birth Defects: Original Article Series, VIII: 7, 1972. The National Foundation, New York. Prieur M, Forabosco A, Dutrillaux B, Laurent C, Bernasconi S, Lejeune J: La trisomie lOq24 -+ 1Oqter. Ann Genet 18: 217, 1975. Roux C, Taillemite JL, Baheux-Morlier G: Trisomie partielle 1Oq par translocation familiale t( lOq-;22p+). Ann Genet 17: 59.1974.

19 Seabright M: A rapid banding technique for human chromosomes. Lancet ii: 97 1, 197 1. 20 Sills JA, Buckton KE, Raeburn JA: Severe mental retardation in a boy with partial trisomy 1Oq and partial monosomy 2q. J Med Genet 13: 507.1976. 21 Sparkes RS, Bass HN, Sparkes MC: lOq(q23qter) Duplication: GOT,, HK and other gene markers. Hum Genet 42: 261,1978. 22 Talvik T, Mikelsaar AV, Mikelsaar R, Kaosaar M, Tiitir S: Inherited translocation in two families (t(l4q+;lOq-) and t(13q-;21q+)). Hum Genet 19: 215,1973. 23 Tsuchimoto T, Biihler EM; 4th Meet. Sect. Cytogenet., Sot Anthropol Hum Genet, 1974. 24 Willson JR, Beecham CT, Carrington ER: Obstetrics and Gynecology, p 130. CV Mosby Publ, St. Louis, 1971. 25 Yunis J, Sanchez 0: A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J Pediatr 84: 567, 1974. 26 Yunis J (ed): New Chromosomal Syndromes, p. 219. Academic Press, New York, 1977. Address for reprints: Waldemar A. PaIutke, M.D. Associate Professor Department of Patiology Wayne State University School of Medicine 540 East Canfield Detroit, Michigan 48201 USA

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