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Ring Chromosome 18 in a Patient with Multiple Anomalies* CATHERINE G

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Ring Chromosome 18 in a Patient with Multiple Anomalies* CATHERINE G J Med Genet: first published as 10.1136/jmg.4.2.117 on 1 June 1967. Downloaded from 7. med. Genet. (1967). 4, 117. Ring Chromosome 18 in a Patient with Multiple Anomalies* CATHERINE G. PALMER, NUZHAT FAREED, and A. DONALD MERRITT From the Department of Medical Genetics, Indiana University School of Medicine, Indianapolis, Indiana, U.S.A. Ring chromosomes, long of interest in cytogene- At the time of evaluation, the patient (Fig. 1) was 10 tics, have been intensively studied in corn and years old, mentally retarded, and hyperactive. He was Drosophila (McClintock, 1932, 1938; Morgan, 1933; co-operative and able to speak with a three-word syntax. Battacharya, 1950) and also described in Crepis, He had a kyphotic posture and broad-based, balanced gait. The height was 126 cm., weight 212 kg. (both Tulipa, Tradescantia, and other species. In the below the third centile). past few years, a number of reports of ring chromo- His occipital-frontal circumference was 49 cm. (two somes in man have appeared (Table I). We recently standard deviations below the normal). There was encountered a mentally retarded patient with bony roughness over the posterior occipital region. multiple congenital anomalies, in a high proportion The neck had a slight extra fold of skin over the trape- of whose cells we found a ring chromosome 18. zius muscles suggesting webbing, and there was a low The clinical expression of patients with 18 long hairline posteriorly. Ocular findings included an anti- (Lejeune, Berger, Lafourcade, and Rethore, 1966) mongoloid slant, hypertelorism, exotropia, nystagmus, and short arm deletions (Grouchy, Bonnette, and and a normal fundoscopic appearance. Unusual facial copyright. Salmon, 1966) are contrasted and with features were large, well-differentiated, low-set ears, compared prominent supraorbital ridges, and a broad-bridged, the findings in our patient and other patients with upturned nose (Fig. 1). Otoscopic examination was ring 18 chromosomes. The variability in size and normal. The angles of the mouth had a downward frequency of ring chromosomes in human subjects slope. The tongue was fissured. The chest had a slight and in this patient are discussed. anterior protuberance and a praecordial bulge. There was cardiomegaly and a grade 3/4 systolic blowing http://jmg.bmj.com/ murmur, best heard along the left sternal border. The Case Report liver was palpable 3 cm. below the right costal margin. The patient was a 10-year-old white boy with mental The spleen was not palpable. retardation and multiple congenital anomalies, who had Examination of the extremities revealed limitation of been followed at the Indiana University Medical Center elbow extension at 160 degrees on the right and 170 since the age of 16 months. degrees on the left. Supination and pronation were He was the fourth child of a healthy, non-con- decreased by 15 degrees on the right and 10 degrees on sanguineous marriage of a 29-year-old father and 26- the left. The wrist joints had ulnar deviation. The on September 30, 2021 by guest. Protected year-old mother. Four sibs are healthy; a fifth died of hands were hyperextensile and spade-like, with broad 'cord strangulation' at birth. The pregnancy and de- palms, short fingers (especially the index and the fifth), livery were uncomplicated except for an upper respiratory and proximally placed thumbs (Fig. 1). The lower infection during the fourth month of gestation. The extremities were thin, and could best be described as patient was cyanotic at birth and weighed 3 97 kg. The stork-like, with prominent knees and thin lower legs. unusual findings known to the mother at birth were The knee joints had a full range of motion, but the ankle 'clubbed feet, a heart murmur, and decreased move- joints could be moved only 5 to 10 degrees in any direc- ments of the elbow joints'. Developmentally, he sat tion. The feet were planovalgoid with callus forma- at 9 months, pulled up at 12 months, crawled at 14 tion anterior to the usual calcaneal pad resulting from months, said 'mama' at 16 months, walked at 3 years, talipes calcaneovalgus. Bilaterally, the third toes were and was toilet-trained at 5 years. long and flexed beneath the second toes; the fourth and fifth toes were also moderately flexed and the first toes were broad (Fig. 1). Pulmonary osteoarthropathy and Received January 12, 1967. mild cyanosis were present in all fingers and toes. The * Supported in part by the Riley Memorial Association and external genitalia were those of a nornal prepubescent U.S.P.H.S. Grants HD 358 and GM 1056. male with both testes palpable in the scrotum. 117 118 Palmer, Fareed, and Merritt J Med Genet: first published as 10.1136/jmg.4.2.117 on 1 June 1967. Downloaded from TABLE I protein and antistreptolysin-O titres negative. Total RING CHROMOSOMES IN CONGENITAL serum proteins 7-4 g./100 ml. (albumin 3-2 g. and MALFORMATIONS globulin 42 g./100 ml.). Paper electrophoresis of serum revealed albumin 44*5%//, a,-globulin 5 3%, a2-globulin Cells Size 5 3%, ,B-globulin 10-6%, and y-globulin 33-3%. R Chromosome Tissue wit iVns- frec Serum iron was 110 ,ug./100 ml. with a total iron- No. or Group Ring inn Rernc Rings binding capacity of 375 jug./100 ml. 1 Leucocytes 87 x Gordon and Cooke Radiological Studies. These revealed micro- (1964) cephaly, generalized cardiomegaly, engorged pulmonary 2 Bone- 90 DiGrado, Mendes, marrow and Schroeder vasculature, bilateral congenital vertical talus leading to (1964) rocker-bottom feet and valgus deformities (Fig. 2). 3 Leucocytes - Mukerjee and Bur- dette (1966) There was posterior dislocation of the head of the radius 5 Leucocytes 100 Rohde and Tomp- kins (1965) and medial dislocation of the ulnar trochlear joint on the C Leucocytes 50 Fisher (1965) right side. The terminal phalanges were small and the Skin 20 thumb was very low set (Fig. 3). The lower spine was C Leucocytes 80 Turner, Jennings, Skin 89 Den Dulk, and unusual. The normal increase in the interpedicular Bone- 100 Stapleton (1962) occurs on marrow distance that the lumbar area, craniocaudally, X Leucocytes 66 Pfeiffer and Buch- was reversed in that the distance at the first lumbar ner (1964) vertebra was 24 mm. and at the fifth 18 mm., a X Leucocytes 12 Hustinx and Stoe- finding Skin < 1 linga (1964) also seen in achondroplasia. The odontoid process was X Leucocytes 35 Lindsten and Til- Skin 0 linger (1962) present. The femoral neck could only be described X Leucocytes 7 x Luers, Struck, and as massive and the femoral condyles were slightly Nivinny-Stickel (1963) flattened. X Leucocytes 14 x Bishop, Blank, The conclusions derived from cardiac catheterization Skin 11 Simpson, and Dewhurst (1966) with cine-angiograms were: total pulmonary venous. X Leucocytes 14 Paolini, Berger, drainage into the right ventricle probably via the coro- Rethore, Lafour- cade,and Lejeune nary sinus, left ventricle small with an intact interven- (1966) tricular septum, and a moderate left-to-right atrial X Leucocytes 41 x Bain and Gauld copyright. (1963) shunt. All heart chambers had almost equal oxygen D Leucocytes 100 Reisman, Darnell, concentrations, and there was a moderate increase in the and Murphy (1965) right ventricular and pulmonary artery pressures. The D Leucocytes - Adams (1965) electrocardiogram had tall P waves suggestive of cor D Thymus 93 Bain, Gauld, and Farquhar (1965) pulmonale. D Leucocytes 100 x Wang et al. (1962) An audiogram revealed a moderate high frequency loss. E Leucocytes 100 x Wang et al. (1962) 17-18 Skin 6-72 x Lucas et al. (1963) http://jmg.bmj.com/ Leucocytes 65 5-76 Dermatoglyphics showed that the axial triradii were 18 Leucocytes 100 Gropp et al. (1964) in the t position and 6 out of 10 fingers had whorls. 16 Leucocytes 80 E. Pergament, T. Kadotani, A. The remaining fingers had ulnar loops (the left index, Walczak, and L. and the first, second, and third fingers of the right hand). Brando, 1965, was no personal com- There pattern in the thenar, hypothenar, or in the- munication first interdigital spaces. The digital ridge count was 17-18 Leucocytes 100 Grouchy et al. (1964) normal. The footprints showed that the left hallucal 18 Leucocytes 100 This paper area had a distal loop with a proximal arch in the right 18 Leucocytes 87-3 Genest et al. (1963) * Leucocytes 26-8* foot. All toes had fibular loops. on September 30, 2021 by guest. Protected Skin 10 Atkins, Sceery, and Blood from the patient, his parents, and sisters was. Keenan (1966) typed for erythrocytic antigens, erythrocytic acid phosphatase, phosphoglucomutase, and serum hapto- * Unidentified ring as extra chromosome showing progressive loss with time. globin. The data are shown in Table II. On the basis of heterozygosity of the patient for the MN, Kidd, and red cell acid we Laboratory Studies. Repeated urine analyses phosphatase loci can exclude these loci from localization in the deleted segment. The other revealed no abnormalities, and there was no chromato- blood group, haptoglobin, and phosphoglucomutase graphic (paper) evidence of abnormal amino acid excre- loci do not contribute evidence for or against tion. Haemoglobin 16 g./100 ml.; leucocyte counts and inclusion in the deleted segment. differentials normal. Blood urea nitrogen consistently below 15 mg./100 ml., fasting blood glucose 74 mg./ Cytogenetic Studies. Chromosome studies were 100 ml., serum acid phosphatase 0-65 Bessy-Loury made on leucocyte cultures utilizing the method of units, serum alkaline phosphatase 4-1 and 4-8 Bessy- Moorhead, Nowell, Mellman, Battips, and Hungerford Loury units (normal 2-8-6-7 units for this age-group), (1960), with modifications previously described (Palmer serum glutamic oxaloacetic and glutamic pyruvate tran- and Funderburk, 1965).
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