Header

UZH-Logo

Maintenance Infos

Incomplete trisomy 22 III. Mosaic-trisomy 22 and the problem of full trisomy 22


Schinzel, Albert (1981). Incomplete trisomy 22 III. Mosaic-trisomy 22 and the problem of full trisomy 22. Human Genetics, 56(3):269-273.

Abstract

A severely growth-retarded female newborn is described, who died a few hours after birth. About half of the clones and metaphases from an amniotic fluid cell culture (set up at the 3th week of gestation) and only 1/27 of the metaphases from a blood lymphocyte culture contained an additional No. 22 chromosome. Abnormal findings in the patient included a complex congenital heart defect, membranous anal atresia without fistula, distal limb hypoplasia, partial cutaneous syndactyly between second and third toes, and a left preauricular pit. On the basis of this case and other reports from the literature arguments for and againts the existence of full human trisomy 22 are discussed. the conclusion seems likely, that full trisomy 22 usually presents a lethal condition in man, though at present an occasional survival cannot be excluded.

Abstract

A severely growth-retarded female newborn is described, who died a few hours after birth. About half of the clones and metaphases from an amniotic fluid cell culture (set up at the 3th week of gestation) and only 1/27 of the metaphases from a blood lymphocyte culture contained an additional No. 22 chromosome. Abnormal findings in the patient included a complex congenital heart defect, membranous anal atresia without fistula, distal limb hypoplasia, partial cutaneous syndactyly between second and third toes, and a left preauricular pit. On the basis of this case and other reports from the literature arguments for and againts the existence of full human trisomy 22 are discussed. the conclusion seems likely, that full trisomy 22 usually presents a lethal condition in man, though at present an occasional survival cannot be excluded.

Statistics

Citations

Dimensions.ai Metrics

Altmetrics

Downloads

1 download since deposited on 09 Apr 2024
1 download since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Congenital Heart, Amniotic Fluid, Abnormal Finding, Congenital Heart Defect, Lymphocyte Culture
Language:English
Date:1 February 1981
Deposited On:09 Apr 2024 07:01
Last Modified:10 Apr 2024 20:00
Publisher:Springer
ISSN:0340-6717
OA Status:Green
Publisher DOI:https://doi.org/10.1007/bf00274677
PubMed ID:7239510
  • Content: Published Version
  • Language: English