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PMID: 8444474 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

Human genetics ·Vol. 90 ·No. 6 ·1993-02-00 ·Pages 663-5

Desmaze C, Scambler P, Prieur M, Halford S, Sidi D, Le Deist F, Aurias A

Abstract

In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In the ten patients, a microdeletion was demonstrated by in situ hybridization, but suspected only in two patients by high resolution banding.

MeSH Terms
Adult Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 22 DiGeorge Syndrome/diagnosis,genetics Female Genetic Testing Humans In Situ Hybridization, Fluorescence Infant Male
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Desmaze C
URA 620 CNRS, Institut Curie, Paris, France.
Scambler P
Prieur M
Halford S
Sidi D
Le Deist F
Aurias A
References (7)
7 references, click to expand
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  2. Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.
    Genomics. 1990 Jul;7(3):299-306 PMID: 2365351
  3. The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome.
    Eur J Pediatr. 1988 Jun;147(5):496-502 PMID: 3044796
  4. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.
    Genomics. 1991 May;10(1):201-6 PMID: 2045103
  5. The DiGeorge anomaly as a developmental field defect.
    Am J Med Genet Suppl. 1986;2:113-27 PMID: 3146281
  6. [Di George syndrome, exemplary rhomboencephalic neurocristopathy].
    Rev Stomatol Chir Maxillofac. 1983;84(2):103-8 PMID: 6574567
  7. Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.
    J Med Genet. 1992 Apr;29(4):233-5 PMID: 1583641
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00202489
Published
1993-02-00
Pages
663-5
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00202489 View journal details
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