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RECONSIDERATION of the CAT EYE SYNDROME: RECIPROCAL TRANSLOCA'iion T(1L,22) LEADING to PARTIAL TRISOMY of Llqand22

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RECONSIDERATION of the CAT EYE SYNDROME: RECIPROCAL TRANSLOCA'iion T(1L,22) LEADING to PARTIAL TRISOMY of Llqand22 Volume 3 Number 1,2 Bahar & Tabestan1368 . Spring & Summer 1989 RECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCA'IION T(1l,22) LEADING TO PARTIAL TRISOMY OF llqAND22. R. KARIMI-NEJAD, B.A.: M. GHOFRANI, M.D.:- A. NAJAFI, M.D.:- AND M.H. KARIMI-NEJAD, M.D.- From the· Department ofPathology and Genetics, Iran University ofMedical Sciences, and the ••Departments of Pediatrics and Opthalmology, Shahid Beheshti University of Medical Sciences, Tehran, Islamic Republic ofIran. ABSTRACT We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter -+ 22qll:: llq23 � llqter in a child with multiple malformations whose mother has a balanced reciprocal transloca­ tion t(1l,22} with a history of two previous abortions. We emphasize the importance of family study in such cases. MJIR1, Vo1.3, Nol&2, 83·86, 1989 INTRODUCTION mgllOO ml). At examination, the child, a 7 month old female had a head circumference of 39.5 cm (below the Cat eye syndrome was the name given to children 10th percentile) with mild cleft palate, preauricular with multiple congenital anomalies and a small super­ fistula and peculiar facies (Fig. 1) The child was numerary chromosome.6,9 Extensive use of banding reported to have ASD, VSD, proximal pulmonary techniques has revealed that nearly all cases are in fact a stenosis and right ventricular hypertrophy, The child partial trisomy of chromosomes 11 and 22, the result of died of respiratory infection at 23 months of age, a 3:1 malsegregation of a balanced parental reciprocal Chromosomal study of the child revealed 47, XX + M, translocation,I.2.5.8 chromosome resembling chromosome 22, yet shorter. Chromosomal studies of parents and sib were per­ formed. Karyotype of the father was normal (46, XX), CASE REPORT that of mother and brother revealed 46, XX, t(ll ;22), (l1pter ---> llq23: : 22qll ---> 22qter;22pter --->qll: : The patient was born to an unrelated couple, mar­ llq23 ---> llqter), and 46, XX with the same balanced ried for 13 years with history of 2 abortions at 1 and 2 reciprocal 11,22 translocation, respectively. There­ months respectively, The two subsequent pregnancies fore, it was concluded that the marker chromosome resulted in an apparently healthy boy and the index was 22pter---> 22qll: : llq23 ---> llqter inherited from case. The 4th pregnancy was uneventful and ended in a the mother (Fig, 2). cesarian section because of placenta praevia at 9 mo nths. Brith weight was 3.0 kg, Exchange transfusion was performed on the 4th day. (serum bilirubin.19.5 DISCUSSION The cat eye syndrome is the name given to cases Reprint requests and correspondence to: reported of patients with some of the following Prof. M. H. Karimi-Nejad, M.D. Massoud Laboratory features:6,9 moderate mental retardation, congenital 347 Mirdamad Blvd. malformations such as anal atresia, ocular coloboma, Tehran 19696, Iran,Tel: 222034 palpebral fissures slanting downward and outward, low This case has been presented at the 21st Symposium of the European set ears, mild hypertelorism, epicanthal fold, nystag­ Society of Human Genetics, May 11-13, 1989, Groningen, the mus or strabismus, congenital heart defects,microph- Netherlands. 83 R. Karimi Nejad, et al Fig. 1, A,. The chubby face and malformed low set ears are evident. Fig. 1, B. Cleft palate is noticeable. thalmia, pretragian tags and/or pits, anomalies of the some 11 (Fig. 3), Therefore, the parent is a carrier of '. urinary tract, and of the skeleton. balanced reciprocal translocation,8,11 Because of Few of the sixty reported cases of cat eye syndrome rearrangements within these chromosomes, have the complete syndrome6•7•9 Their karyotypes malsegregation may occur at nuclear divisiolIn ::� :� ; :�: reveal a supernumerary chromosome that varies in size in an abnormal gamete with the extra n �� l� l from a small metacentric chromosome to a G-like chromosome.1 0 chromosome thought to be a chromosome 22, In 5/6 of From 51 reported cases, three have inherited the reports the supernumerary chromosome is smaller the father and the remainder from mother with than chromosome 22 and is designated as a non-21 incidence of nonfamilial or de novo tnmsio(:ati011. G-chromosome.7 According to the literature, the low in(:id'�fi(:e(If f'lth.er In 1972, Buhler, et. al4 reported the first observa­ to-offspringinheritance is due to a decrease in tion of a familial translocation between in the male. However, the frequency of abortion is chromosomesll and chromosome 22,leading to a shor­ regardless olthe sex of the carrier (35.5% ± 5.0), ter chromosome 22, and suggested that the super­ The frequency of recurrence is estinlated numerary chromosome in the cat eye syndrome was a tween 2%-6% and 2%-4% for female and male 22 q-. Aurias in 1975 reported the first reciprocal location carriers respectively, 5 although data for parental t(11;22) leading to an offspring bearing a are inconclusive due to the few number of karyotype with the extra small acrocentric reported. The features noted in children with chromosome.' Since then, approximately 51 more rearranged chromosome (22pter --> 2211 .. 'HI'OJ cases of such parental t(11;22) have been reported.2,5 llqter) in an unbalanced karyotype are as In the parent, the chromosome is the product of a microcephaly, wide face willi chubby cheeks, reciprocal translocation between chromosomes 11 and broad, flat nose, a long prominent philtrum, reltracti' 22 wherein the terminal segment of the long arm of of the lower lip, microretrognathia, high an:neu I>a>' chromosome 22 is exchanged for a slightly shorter or cleft palate, glossoptosia, low set deformed ears terminal segment from chromosome 11, resulting in a blind pits, preauricular tag, hypoplastic genitalia in slightly shorter chromosome 22 and a longer chromo- male and or cryptorchidism, 84 Cat Eye Syndrome f) >1 II I) II 11 II II II II II II 51 u " U n II n 'I a,,, .. u I( Fig. 2, A. Karyotype of child showing the supernumerary chromosome in the 22 group (arrow). I f JJ 11 11 iI 11 " 11 II II II II U II II il6 It II u u ;.,,. All 'a II Ie Fig. 2, B. Karyotype of the mother with balanced translocation (11;22). Arrows indicate : 1 chromosomes 11 and 22, one which is slightly longer and the latter which is slightly Ig shorter than its homologue. ,d The most common malformations are complex have been made and all cases considered to have the cat m heart defects, renal anomalies, and hip dislocation, and eye syndrome are ascertained to be trisomic for llq. '0 �,5 less frequently, malrotation of the intestine, uterine The case we report is typical of the process of . anomalies, diaphragm hypoplasia, and atresia of the understanding the etiology of these cases. When first r­ collar bone. These children are usually hypotonic and ty have severe psychomotor and growth retardation:,2,5-10 �h 11 22 i,6 These features are similar to the findingsin children with trisomy llq2. Presumably associated with the e­ small segment that is chromosome 22, are the following s­ features: anal anomalies, auricular maldevelopment, ;""'S__ llq23 es and palpe6ral fissures slanted downward and '" es � �., �11qter Outward.2 Whether complete trisomy 22 as such exists Ie is a(present debatable. There has not been a trisomic 22 ..... 22qll child born to parent who is carrier of a balanced s: Robertsonian translocation involving chromosomes +-22qter 'I , n. All offsprings from the carrier of a balanced m Reciprocal Translocation translocation t(22,22) are aborted in very early stages 1-1 te Between Chromosomes and 22 of gestation. According to Boue, et. al. trisomy 22 is th 3. frequent in spontaneous abortion. 3 Since using modern Fig. Schematic representation of the exchange between chromo­ Ie banding techniques, no further reports of trisomy 22 somes 11 and 22 and the resultant chromosomes with the balanced translocation. 85 R. Karimi Nejad, et al • "' presented with the child and upon examination, we partial trisomy 22. Hum Genet 15: 150-162, 1981.. considered the cat eye syndrome as a likely diagnosis 5· Fraccaro M, Lindsten J, Ford CE, Iselius C: The llq, 22q and cytogenetic findings seemed to confirm this, translocation: a European collabortive of 43 cases. Hum Genet 56: 21-52, 1980. although the smaller size of the chromosome we 6- de Grouchy J, Turleau C: ClinicalAtlas of Human chromosomes . assumed to be chromosome 22, led· us to study the John Wiley & S o.s', 1984. O karyotypes of the entire family. As we were able to 7-Guani G: The aetiology of cat eye syndrome reconsidered. J Med detect the translocation in the mother, we could iden­ Genet 18: 108-18, 1981. TM, tify more accurately the supernumerary chromosome 8- Najafzadeh Dumars KW: Duplication of distal llq and occurrencein two unrelated families. Am J Med uenelt":J4l.-h of the child and recognize the child's symptoms as those 1981. of partial trisomy llq and 22q. 9- Nyhan W, Sakati N: Genetic & rm n M a alf t io O As this translocation is the most common reciprocal Clinical Medicine. Year Book,� :�: � [� ��� :� 1 �:: f � translocation inhuman beings leading to live abnormal 10-SchnozelA, et al: Incomplete mitotic disjunction. a common clinical picture and report of nine new� casesTh;� from offspring, we would like to emphasize the importance �:::�� families. Hum Genet 56: 249-62, 1981. of familial study in its detection. Addendum REFERENCES While the article was under print, 2 recent reports trisomy 22 in liveborn infants who died perinatally was . ' These are the only two reportsof trisomy 22 employing high. 1-AuriasA, Tore C, Michiels Y, Sine PM, Graveleau D, Lejeune J: resolution banding and therefore certain as to the trisomy.
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