Arch Dis Child: first published as 10.1136/adc.56.11.882 on 1 November 1981. Downloaded from 882 Lund, Valman, and Platt The daily urine output may be of low volume We thank the Department of Medical Illustration during the first few days of life especially in low for the photographs and Miss D Davis and Miss birthweight infants. To lessen urine loss we apply Rose-Marie Aikens for advice. The apparatus was silicone oil to all the drainage surfaces of the tray and constructed by Lawry Brice. scrape retained droplets of urine towards the drainage pipe using the rubber blade of a small References window cleaner. Evaporative losses are reduced by nursing the child in humidified air. Clifton J. Collecting 24 hour urine specimens from There is no discomfort to the infant and the infants. Am JNurs 1969; 69: 1660-1. 2 Sato F. New devices for continuous urine collection in method is ethically and socially acceptable. Mothers pediatrics. Am J Nurs 1969; 69: 804-5. can breast feed their infants under supervision, 3 Hepner R, Lubchenco L 0. A method for continuous while any urine voided during the feed can be urine and stool collection in young infants. Pediatrics collected in a warmed under the 1960; 26: 828-31. receptacle placed 4 Winter J S D, Baker L, Eberlein W R. A mobile metabolic female infant's buttocks, or positioned over the penis. crib for infants. Am J Dis Child 1967; 114: 150-1. This device has greatly improved the accuracy and Lewis H. A cot for metabolic studies. Arch Dis Child acceptability of prolonged urine collection for 1977; 52: 737-8. clinical and, especially, research purposes. The original model was constructed in stainless steel but Correspondence to Dr R Johan Lund, 125 2nd Avenue, it could be reproduced, in most research workshops, Kenilworth 7700, Republic of South Africa. from a lighter and cheaper moulded plastic or Perspex. Received 6 April 1981 Chromosome 15 in floppy infants copyright. A CAROLINE BERRY, ALISON J WHITTINGHAM, AND BRIAN G R NEVILLE Prince Philip Research Laboratories, Paediatric Research Unit and Newcomen Centre, Guy's Hospital Medical School, London has had no miscarriages, He was a term, breech SUMMARY Three children with Prader-Willi delivery and weighed 2- 7 kg at birth. He was noted syndrome and chromosome abnormalities affecting to be very floppy as an infant and did not sit unaided http://adc.bmj.com/ chromosome 15 are described and the literature is until age 18 months. No information is available reviewed. The usefulness of chromosome analysis in about early feeding habits but he started to gain the investigation of the floppy infant is illustrated by excess weight at about 9 months. He has had two of the cases described. Twenty-three other surgery to correct strabismus of the right eye but children with similar clinical features had normal has no other medical problems. When seen at age 8 chromosomes. years he was attending a residential school for ESN (M) children and was making reasonable progress. The association of apparently balanced chromosome His height was on the 10th centile and his weight on September 29, 2021 by guest. Protected rearrangements involving chromosome 15 with of 80 kg on the 97th centile and he was grossly Prader-Willi syndrome has been reported pre- obese, with fat distributed mainly around his chest viouslyl-5 We wish to describe for the first time the and abdomen. He had a moon-shaped face with presence of a Y/15 translocation in a boy with this almond-shaped eyes, and a slight antimongoloid syndrome, and we also wish to describe 2 girls who slant to the palpebral fissures. His penis was small presented in the neonatal period with extreme and buried in fat and the scrotum hypoplastic. hypotonia and who too were found to have balanced Neither testis was descended and they could not be translocations ofchromosome 15. palpated in the inguinal canal. His hands and feet Case reports were of normal size and he had a tendency to genu valgum. When last seen at age 11 2 years his height was Case 1. This was the first son of healthy, unrelated on the 15th centile and his weight was being con- parents who were each aged 26 years at the time of trolled by an 800-calorie diet maintained by his his birth. He has one healthy brother and his mother residential school. Arch Dis Child: first published as 10.1136/adc.56.11.882 on 1 November 1981. Downloaded from Chromosome 15 in floppy infants 883 Chromosome analysis using G, C, and Q banding Case 3. This was the second daughter of healthy, showed chromosome complement 45,X,t(Y;15) unrelated parents who were aged 33 (father) and 35 (pl 1; ql 1) or tdic (Y;15) (pl 1; pl 1). (mother) years at the time of her birth. The mother's The breakpoints were difficult to establish with first pregnancy had ended in an early spontaneous certainty but there was some evidence from abortion and the second one in the birth of a healthy distamycin DAPI staining that 2 centromeres were daughter. More recently a healthy son has been born. present. Case 3 was born at term, with normal delivery, and a Both parents had normal chromosome com- birthweight of 3 - 63 kg. The mother was not aware of plements. any paucity offetal movements. At birth pronounced micrognathia, mild talipes Case 2. This girl was the first child of healthy equinovarus, and extreme hypotonia were noted, and unrelated parents who were aged 36 (father) and she had an episode ofjerking interpreted as epilepsy 25 (mother) years at the time of her birth. The during the first 24 hours. Tube feeding was required mother had had one previous pregnancy which had for several weeks. During this time she was found to ended in a first-trimester miscarriage. The pregnancy have a tendency to flexion deformity of the fingers lasted 38 weeks; the mother commented on the lack which responded to passive movements. She had no of fetal movements and the baby girl was delivered head control and made few active movements, but by the breech. Birthweight was 3 46 kg. Hypotonia, tendon reflexes were present. micrognathia, short neck with bilateral sterno- mastoid haematomas, and limited hip adduction Investigations Serum creatine levels were as were noted at birth and the baby fed very poorly so phosphokinase normal, that tube feeding had to be introduced and continued were electromyogram and computerised tomography scan. for 3 months. A dislocated right hip was detected on day 3 and treated with a splint. Extreme hypotonia Chromosome analysis using Giemsa banding and DAPI showed the of a persisted and at age 4 months she had no head distamycin staining presence Robertsonian translocation affecting the two 15 control, poor visual attention, and episodes of copyright. vertical eye rolling. There was weakness of all homologues: 45,XX, t(15;15) (p 11 q 1). muscle groups but active movements could be Both parents had normal chromosome comr.- provoked and tendon reflexes were preserved. plements. This baby's management, too, was complicated by Investigations parental rejection and she was eventually sent to The following gave normal results: serum creatine foster parents. She has made steady progress walking phosphokinase, thyroxine, electrolytes, and calcium at age 3 years and with intellectual development concentrations, and the electromyogram. Chromo- proceeding at about two-thirds the normal rate. some analysis using G, C, and Q banding showed an http://adc.bmj.com/ apparently balanced Robertsonian translocation Discussion affecting chromosomes 13 and 15. The relationship between chromosome rearrange- ment affecting chromosome 15 and the Prader-Willi 45,XX,t(13;15) (pl I ;ql 1) or (ql 1 ;pl 1) syndrome has aroused curiosity ever since Hawkey The father had a normal male chromosome com- and Smithies' reported a 15/15 translocation in a boy plement. The mother had an identical chromosome with Prader-Willi syndrome. Since then several complement to her daughter; her face had certain further 15/15 translocations2 3 and translocatioips similarities to her daughter's; and she has since between chromosomes 15 and other autosomes for on September 29, 2021 by guest. Protected gained weight excessively. example 144 and 3p5-have been reported in individ- The baby's management was complicated by the uals with features typical of this condition. No previ- parents' initial rejection of her so that she remained ous report of a Y/15 translocation in Prader-Willi in hospital until aged 4 months. Her social and visual syndrome is known to us although Subrt and responsiveness then improved and in the second BlehovO6 described a family in which several 6 months oflife her motor development showed rapid apparently normal males carried such a translocation progress. Since then she has made slow but steady while the abnormal propositus was described as progress although she was obese by age 3 (height on severely hypotonic with pronounced psychomotor 10th centile, weight on 90th). When last seen at retardation and strabismus, but with no mention of age 5 her psychological assessment showed that she hypogonadism. was functioning in the upper end of the ESN (M) Most children with Prader-Willi syndrome are range of ability with motor immaturity, hypotonia, chromosomally normal, and the clinical features in and fatiguability. the neonate are well known. Arch Dis Child: first published as 10.1136/adc.56.11.882 on 1 November 1981. Downloaded from 884 Berry, Whittingham, and Neville Since the initial report in 1976 we have karyotyped being different in each cell line. In each cell line the 26 children with hypotonia and features of Prader- short arms and centromere of chromosome 15 were Willi syndrome and with the exception of these 3 missing.