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Literature DB >> 3474207

Trisomy 22 in a newborn with multiple malformations.

I Voiculescu, E Back, A M Duncan, H Schwaibold, W Schempp.

Abstract

A case of complete trisomy 22 in a live-born female child with multiple malformations is reported. The karyotype of the index patient had 46 chromosomes, with one chromosome 22 missing and one supranumerary metacentric chromosome. Different banding methods and in situ hybridization revealed that the extra chromosome consists of the long arms and a part of the short arms of two chromosomes 22. Our report supplies further proof that a fetus with complete trisomy 22 can occasionally survive to term, but the condition is not compatible with life over a long period.

Entities: Disease Species

Mesh：

Substances：
Genetic Markers

Year: 1987 PMID： 3474207 DOI： 10.1007/BF00283629

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

22 in total

1. Balanced homologous translocation t(22q22q) in a phenotypically normal woman with repeated spontaneous abortions.

Authors: L M Farah; H R de Nazareth; M Dolnikoff; D Delascio
Journal: Humangenetik Date: 1975-08-25

2. A new contribution to the study of 22 trisomy.

Authors: A Pérez-Castillo; J A Abrisqueta; M A Martin-Lucas; C Goday; J Del Mazo; V Aller
Journal: Humangenetik Date: 1975-09-20

3. Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes.

Authors: R A Pagon; J G Hall; S L Davenport; J Aase; T H Norwood; H W Hoehn
Journal: Am J Hum Genet Date: 1979-01 Impact factor: 11.025

4. A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique,.

Authors: T Maeda; M Ohno; N Shimada; M Nishida; T Jobo
Journal: Hum Genet Date: 1976-02-29 Impact factor: 4.132

5. Recurrent abortion associated with a balanced 22;22 translocation, or isochromosome 22q in a monozygous twin.

Authors: B V Lewis; M A Ridler
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

6. Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q).

Authors: L Atkins; C S Bartsocas
Journal: J Med Genet Date: 1974-09 Impact factor: 6.318

7. [Mosaic trisomy 13 with isochromosome: 46, XX-46, XX, 13-, 13 q:].

Authors: J M Emberger; C Nègre; R Lafon
Journal: Ann Genet Date: 1972-06

8. Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization.

Authors: M E Harper; G F Saunders
Journal: Chromosoma Date: 1981 Impact factor: 4.316

9. Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13).

Authors: A Schinzel
Journal: Hum Genet Date: 1981 Impact factor: 4.132