The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation.
We report a child with multiple malformations caused by trisomy for the distal part of the long arm of chromosome No 5. A neonatal diagnosis of Down's syndrome had previously been made on the basis of clinical examination and the detection of an additional chromosome not unlike No 21. A subsequent clinical re-evaluation, with the cooperation of the parents who permitted further studies, led to the confirmation of the true diagnosis. The mother was the carrier of a balanced translocation between chromosome No 5 and No 14. The child had severe growth and psychomotor retardation and characteristic features: microcephaly, antimongoloid slant, epicanthus, low set ears, down-turned mouth, and long upper lip. She was hypertonic and a congenital heart disease (atrial septal defect) was present. We have compared this case with others known to be trisomic for segment 5q31-qter.
Elias-Jones
A C
AC
Department of Paediatrics, Queen Elizabeth Hospital for Children, London.
Habibi
P
P
Larcher
V F
VF
Spencer
T
T
Butler
L J
LJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics*; D011597:Psychomotor Performance; D014178:Translocation, Genetic; D014314:Trisomy