Partial deletion of the short arm of chromosome 3
- 1 May 1981
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 136 (2), 211-216
- https://doi.org/10.1007/bf00441927
Abstract
A case of deletion of the short arm of chromosome 3 (46,XY,del(3)(p253) is described. The patient is a youth of 18 years in an institution for the mentally retarded. Phenotypically, he presents congenital heart disease, hypertelorism, ptosis, epicanthus, blepharophimosis, strabismus, nystagmus, synophrys, low-set ears, frequent infections, epilepsy (abnormal EEG and grand mal seizures), “rocker bottom” feet, flat occiput and muscular hypotonia. The parents are healthy and with normal karyotypes. A silent allele in the GPT system was found in the mother, the propositus and 4 of the 5 siblings.Keywords
This publication has 14 references indexed in Scilit:
- Confirmation and further regional assignment of aminoacylase 1 (ACY‐1) on human chromosome 3 using a simplified detection methodAnnals of Human Genetics, 1980
- Anatomic and chromosomal anomalies in 639 spontaneous abortusesHuman Genetics, 1980
- PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME-3 - REPORT OF A CASE1980
- Chromosome 3 Duplication q/Deletion p SyndromePediatrics, 1978
- A Patient With a Partial Deletion of the Short Arm of Chromosome 3American Journal of Diseases of Children, 1978
- Quantitative analysis of high-resolution trypsin-Giemsa bands on human prometaphase chromosomesHuman Genetics, 1978
- High Resolution of Human ChromosomesScience, 1976
- Distribution of spontaneous chromosome breaks in human chromosomesHuman Genetics, 1976
- Aetiology of Spontaneous AbortionActa Obstetricia et Gynecologica Scandinavica, 1976
- Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).1975