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Cytogenetic studies were performed i n 311 children uith b u n ' s syndrome, most of them(65%) from mothers under the age of 35. A t o t a l of 301, m r g o l s (Croup I ) d i d not have any famil i a r history of t h i s syndrome, while t h e other 7 had two o r more affected close r e l a t i v e s (Group 11).The chromosomal findings i n Group I were a s follows: a ) 284 patients (93.42%) uith regular 21 trisomy and the remaining normal corr.plement, except f o r one patient who had aleo m inher i t e d 13:14 translocation; b ) 9 patients (2.96%) u i t h regular 21 trisomy mosaicism and c ) 11 p a t i e n t i (3.61%) with "de novo" translocations: 9 with 21:21 translocation and 2 uith 14:21 translocation. F m m the 7 patients i n Group 11, s i x uere mong o l s with regular trisomy and t h e other one had an inherited 14:21 translocation.!.lthough the finding of the inherited 13814 translocation i n our s e r i e s of b u n ' s syndrome by regular trisomy could occur by chance, it would be important t o study the parents'karyotype even i n the mongols by regular 21 trisomy, because some balanced translocations could produce non-disyunction of 21 p a i r due t o interchmmosomic e f f e c t . Chromsome analyses were performed i n 92 couples with two o r more pregnancy losses. These couples uere studied independently of other possible ethiologic factors. Fourty-six couples had recurrent abortions without any succesfull pregnancy(~roup I ) . Fourteen couples (~r o u~ 11) had recurrent abortions, uith one o r more succesfull pregnancies. The remaining 32 couples (~r o u~ 111) had early and l a t e repmductive losses. 66The chromosomal anomalies were a s follows: Group I a ) 6 cou~l e s (13%) with balanced translocations: 16,XX,t (2;g); 46,XX,t These r e s u l t s suggest t h a t chro~osomal analysis should not be the l a s t study t o be performed i n couples with reproductive losses. A7 NVTRITIONAL STATUS OF PATIENTS I N A PEDIATRIC HQSPI- V ITAL. I ANTRC, POMETRIC ASPECTS. A.hentes, E.Hertrampf G. Barrera y R. Uauy. INTA. CHILE. A n u t r i t i o n a l survey was conducted i n order t o establish t h e prevalence of malnutrition i n patients from t h e medical and surgical wards. Data on anthropometric indicators of n u t r i t i o n a l s t a t u s uere obtained on admission and a t t h e time of t h e study.They included wei ht (W), Height (H) , A m Circumference ( A C ) W~ t r i c e p s skinfold fTS).These values uere expresed a s % of t h e r e ference standard f o r age (A) (NCWLSA). The study included 215 patients whose ages ranged fmm 2 months t o 16 years, 58 ueve surgical and 157 medical patients; 113 were males and 102 fendm On admission 25% were of normal W/A butatthe time of the study only 1% uere i n t h i s range. Sixty seven% of medical and 66% of surgical patients had a W/A l e s s than 5C$ and 29% had low H/Ah both groups.The W/H was diminir hed i n 42% of medical and i n 15% of surgical patients with a fenale predominance of low W/H. A.C was below normal i n 65% of medical and i n 43% of surgica...

We report a boy with a trichorhinophalangeal syndrome (TRP syndrome), severe mental retardation, and transient megacephaly, whose karyotype showed complex, apparently balanced, translocations with breakpoints in bands 3q13, 8p22, 8ql3, llpl2, and 11q21. The fact that cases presenting with phenotypes corresponding to the TRP Il syndrome and deletions of the long arm of chromosome 8 have been recently reported prompted us to report this case to help in the clarification of the possible relation between 8q chromosomal mutation and the aetiology of TRP syndromes. In 1966 Giedion' described a syndrome which he called trichorhinophalangeal syndrome. It consisted of hair anomalies, pear-shaped nose, and brachyphalangy, with other skeletal abnormalities. Although in most families autosomal dominant inheritance was observed, Giedion et a12 conceded that genetic heterogeneity might exist, since in other families autosomal recessive transmission could be postulated. In 1969, Langer3 described a new clinical entity, thoracic-pelvic-phalangeal dystrophy, that shared several symptoms with the trichorhinophalangeal syndrome, its distinguishing features being mental retardation, microcephaly, multiple exostoses, and redundant skin. Later, this syndrome was called Langer-Giedion syndrome or trichorhinophalangeal syndrome type II. Recently, several authors have described patients with TRP II syndrome in whom a deletion of the long arm of chromosome 8 was detected.-'-"' One of these authors4 suggested that TRP II syndrome could be due to a deletion in 8q.

Cytogenetic studies were performed i n 311 children uith Down's syndrome, most of them(65%) from mothers under the age of 35. A t o t a l of 301, m r g o l s (Croup I) d i d not have any famil i a r history of t h i s syndrome, while t h e other 7 had two o r more affected close r e l a t i v e s (Group 11).