The Aetiology of the Cat Eye Syndrome Reconsidered

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Cat eye syndrome
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  Journal of Medical Genetics, 1981, 18, 108-118 The aetiology of the cat eye syndrome reconsidered GINEVRA GUANTI From the Institute of Genetics, University of Bari, Via Amendola 165/A, Bari, Italy SUMMARY The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture includinganal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation. An analysis of published reports revealed that of the57reported cases, only 21 showed the complete form, and 11 had a normal karyotype. Several observations question the existence of a trisomy 22: (1) the absenceof any report in living subjects oftrisomy 22 arising from an inherited Robertsonian translocation; (2) the recurrent abortions in carriers of Robertsonian translocations involving chromosome 22; and (3) the existence of a syndrome, showing the same clinical features as trisomy 22, which is irrefutably dependent on a trisomy of the distal region of the 11 long arm. On the basis of a comparison of the clinical features in full trisomy 13, partial 13 trisomies,13 rings, 13 deletions, and CES the small marker present in this syndrome is considered to be a chromo- some 13 with an interstitial deletion. An attempt to map this chromosome has been made. One century ago, Haab' described the clinical association of ocular colobomaand anal atresia. In 1965 Schachenmann et al2 were the first tofind a supernumerary acrocentric chromosome in three subjects with these malformations. The term 'cat eye', derived from the particular appearance that the vertical iridochoroidal coloboma gives to these patients, was introduced byGerald et al.3 The syndrome is usuallyascribed to the presence of a small submetacentric or acrocentric chromo- some,but there are several case reports in which no chromosomal abnormality is apparent.4-8 Although cytogenetic investigations have not provided precise information, becauseof the small size of the supernumerary element, a 22q - chromosome is believed to be involved. There- fore, the syndrome would depend on a partial 22 trisomy. A recent examination of three patients with cat eye syndrome(CES) and an accurate analysis of the previously reported cases2-49 (table 1 a, b, 2a, b) enabled us to make some observations about the clinical and cytogenetic picture of this syndrome. Received for publication26 May 1980 Case reports CASE 1 This was a newborn male infant, born after 40 weeks' gestation, the first child of a 30-year-old motherand 33-year-old father. The delivery was normal; birthweight 3000 g, head circumference 33 cm, length 55 cm. The following anomalies wereob- served: slopingforehead, prominent occiput, large fontanelles, widely patent cranial sutures, epicanthal folds, hypertelorism, antimongoloid slanting eyes, depressed nasalbridge, prominent nose, increased philtrum length, malformed ears, bilateral preauric- ular skin tags and sinuses  fig 1A), high arched palate, narrow chest, widely spaced nipples, and small scrotum with neither testicle palpable in the sac or in the inguinal canal. Anal atresia wasnoted at 48 hours after birth and was surgically resolved on the third day. Thebaby showed failure to thrive and wasadmitted to hospital for salmonellosis and infection of the urinary tract. He died 50 days after birth. Necropsy showed the following additional abnormalities: micropolygyria of the frontal lobes, intestinal malrotation  fig 1B), megacolon, megaur- eter on right side, andabdominal testes. The death of108  group.bmj.comon March 27, 2014 - Published by  jmg.bmj.comDownloaded from   The aetiology of the cat eye syndrome reconsidered TABLE la karyotype Cat eye synidrome: patients with abnormal Case No Authors Sex I Ballesta et al9 Case 2 2 Case 3 3 Bass et al10 4Beyer et all1 5 Bofinger and Soukupl2 6*Buhler et al03 Case II1.I Case 11.3 7 8 Cervenka et a115 9 Coryand Jamison16 10 Curciol7 11 Darbyand Hughes'8 12 De Chieri et a 19 13 Fryns et a120 14 tGerald et al3 Case 1 15 Case 2 16 Case 3 17 Ginsberg et a124 18 Giraud et a 25 19 Gustavson et a126 Case I 20Case 2 21 Hirschhorn et a 27 22 Iselius and Faxelius2823 Ishmael and Laurence29 24 Johnson et a130 25 Krmpotik et al3l 26 Kriger et a132 27 Kunze et al33 28$Nishi et al34 29 Noel and Quack,35 Noel et a136 30 Petit37 31 Pfeiffer et a138 32 §Pierson et al39 33 Punnett et a 4l 34 Schachenmann et a12 Case 1 35 Case 236 Case 3 37 Schmid42 Case 1 38 Taft et a 43 39 Taillemite et al44 40 Toomey et al45 41 Weber et a146 42 Weleber et al47 43 Zackai et a148 Case 1 44 Case 2 45 Zellweger et al4 Case 1 46 Our case 1 *Same cases in Sebestyen and M6hesl4 tSame cases in Freedom and Gerald,22 Petersen23 tSame case in Noel et a 36 §Same case in Thomas et a140 Same cases in Emanuel et al49 M F F M F F MM F F FF M MM M FF F FFF F M F F F F F M FF MM FFF F M F M F F F M F M TABLE lb Cat exe syndrome: patients with normal karyotype Case No Authors Sex I Franklin and Parslow5 Case I F 2 Case 2 F 3 James et a 6 Case 2 4 Case 55 Case 8 6 Case 15 7 Neu et al7 F 8 Temtamy and McKusicks F 9 Zellweger et a 4 Case 2 F 10 Our case 2 M 11 Our case 3 M TABLE Ic Patients with partial trisomy 13 owing to translocation Case No Authors Sex I Crandall et a150 F 2 Giraud et a 51 F 3 Jacobsen et a152 53 M 4 Stoll et a 54 M 5 Wilson and Melnyk55 F TABLE 1d Patients with 13 ring chromosome Case No Authors Sex I Ailderdice et a156 Case 2 M 2 Biles et a 57 M 3 Grace et a158 Case 2 F 4Kistenmacher and Punnett59 Case 2 F 5 Lejeune et a 60 Case 2 M 6 Reisman et a161 M 7 Rethor6 et a162 F 8 Sparkes et a163 M 9 Tolksdorf et a164 M the patient was attributed to diffuse infection of the urinary tract and to salmonella septicaemia. The family history was unremarkable, with the exceptionof a maternal cousin who died a few days after birth of biliary atresia. Both the parents were in good health and the mother had bilateral pre- auricular pits. Genetic stiudies Sex chromatin was negative. Cytogenetic studies on peripheral blood showed a modal number of 47 chromosomes with one extra chromosome smallerthan a G chromosome. It appeared to have satellites on one end and to participate in satellite association. The identification of this supernumerary chromo- some was impossible even using G, Q, and C band- ing (fig2). Bloodand serum groups were normal. The karyotype of both parents was normal. CASE 2 The patient was the first child of healthy unrelated parents. At the birth the father was 28 years old and the mother 21 years old. Delivery was normal; birth weight3100 g, length 54 cm, head circumference 31-9 cm. During the first weeks the baby suffered from respiratory distress, cyanosis, constant feeding problems, and failure to gain weight. Multiple con- genital malformations were notedincludingslopingforehead, facial asymmetry,antimongoloid slanting of eyes, bilateral coloboma of iris and choroid (fig 1C), right palpebral ptosis, prominent nose, macrostomia, micrognathia, low set ears, hyper- telorism, short neck with low posterior hairline, 109  group.bmj.comon March 27, 2014 - Published by  jmg.bmj.comDownloaded from   GinevraGuanti (a) 1 23 4 5 6 78 9 10 11 1213 14 15 16 17 1819 20 21 22 23 24 25 26 27 28 29 30 31 32 Psychosomatic retardation Genital malforniations Urinary tract anomaliesKidney malformationsCardiovascularanomalies Foot malformations Hand malformations Other skeletal anomalies Limited hipabduction Vertebral malformationsPreauricular pits/tags/sinuses Low set malformed ears Cleft lip or palate MicrognathiaMicrocephaly Ptosis Downward slanting eyes EpicanthusStrabismusHypertelorism Microphthalmia Coloboma Anal atresia or stenosis   ± ± ± ± ± ±++   ± . ± ± I v FIG 1 Case 1, ear malformations (A), intestinal malrotation(B); case 2, ocular coloboma (C), gemfital malformations (D). widely spaced nipples, umbilical hernia, right There was no familial history of congenital mal- cryptorchidism, incurved penis (fig ID), and hypo- formations. spadias. Anal stenosis was suspected because of persistent constipation and thread-like stools. Renal Genetic studies malformations were suspectedbecause of the per- Buccal smearswere negative for sex chromatin. sistent high azotaemia. Cytogenetic investigation on peripheral blood showed 110 TABLE 2 Clinicalfindings  group.bmj.comon March 27, 2014 - Published by  jmg.bmj.comDownloaded from   The aetiology of the cat eye syndrome reconsidered LIBRARY MAY 0 5 1981   IEDERLE LABORATORIESa BIV. _ 333435 3637 383940 41 4243444546   + +   + +   +   +   +   + +   +   +±+   ± b) 1 2 3 456 78 9 10 11   +   + +   +   +   c) 1 2 3 4 5 + +   + (d) 1 2 3 45 6 7 8 9   ±   +   ±± +   + +   2 1 2 2 V f.   FIG 2 Giemsa stained metaphase.(A) The arrow indicates the supernumerary chromosome; (B) Group G, Y and marker chromosomes from two G banded mitoses. a modal number of 46 chromosomes. G, C, and Q banding techniques did not reveal any structural anomalies. Normal karyotypes were found in blood cultures of both parents. CASE 3 This was a newborn male infant born after 42 weeks' gestation by caesarian section. He was the first child of a 26-year-old motherand 35-year-old father. Birthweight was 3250 g, head circumference was 34 cm, and length was 50 cm. He had the following malformations: sloping forehead, hypertelorism, downward slanting eyes, epicanthal folds, bilateral iris coloboma, flattened nose, elongated philtrum,preauricular tags radialdysplasia, vertebral mal- formations, ventricular septal defect, single umbilical artery, low set ears, narrow chest, small scrotum, and bilateral cryptorchidism. Anorectal atresia was noted 24 hours after birth and was immediately resolved surgically. Two days after birth the patient + +   +   +   Zt; L-k S.o -a  r-polf .0 1 A 5W C... . 0 0- ..   ..  . Ai.= ;;- I I i c \ .,. 40f. \N-   .. Ilk 4e 0le 6,4 .:-, M. omew  ..  group.bmj.comon March 27, 2014 - Published by  jmg.bmj.comDownloaded from 
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