Case Reports
doi: 10.1016/s0022-3476(82)80116-9.
The association of the DiGeorge anomalad with partial monosomy of chromosome 22
- PMID: 7097410
- DOI: 10.1016/s0022-3476(82)80116-9
Item in Clipboard
Case Reports
The association of the DiGeorge anomalad with partial monosomy of chromosome 22
J Pediatr.
1982 Aug.
Abstract
We have seen three unrelated patients with the DiGeorge anomalad who also had the same deletion of chromosome 22 (pter leads to qll). In each, the remaining long arm material (qll leads to qter) was translocated to a different autosome. Our patients and a review of the literature, including a recent report of a family having four infants with the DiGeorge anomalad and the same deletion of chromosome 22 (de la Chapelle et al: Hum Genet 57:253, 1981), make a strong argument for at least some cases of the DiGeorge anomalad arising from a deletion of the pericentromeric region of chromosome 22.
Similar articles
-
A deletion in chromosome 22 can cause DiGeorge syndrome.Hum Genet. 1981;57(3):253-6. doi: 10.1007/BF00278938. Hum Genet. 1981. PMID: 7250965
-
Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.Ann Genet. 1989;32(2):92-6. Ann Genet. 1989. PMID: 2667458 Review.
-
Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome.Ann Genet. 1987;30(2):80-4. Ann Genet. 1987. PMID: 3314667 Review.
-
Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.Hum Genet. 1984;65(4):317-9. doi: 10.1007/BF00291554. Hum Genet. 1984. PMID: 6693120
-
In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22.Cytogenet Cell Genet. 1985;39(3):179-83. doi: 10.1159/000132131. Cytogenet Cell Genet. 1985. PMID: 3930157
Cited by
-
Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex.Eur J Pediatr. 1989 Dec;149(3):179-83. doi: 10.1007/BF01958276. Eur J Pediatr. 1989. PMID: 2612507
-
Aortic root dilatation associated with partial trisomy 7(q31.2----qter).Pediatr Cardiol. 1989 Winter;10(1):53-5. doi: 10.1007/BF02328637. Pediatr Cardiol. 1989. PMID: 2704655
-
Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Clin Diagn Lab Immunol. 1999 Nov;6(6):906-11. doi: 10.1128/CDLI.6.6.906-911.1999. Clin Diagn Lab Immunol. 1999. PMID: 10548584 Free PMC article.
-
Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183).Hum Genet. 1995 Aug;96(2):133-41. doi: 10.1007/BF00207368. Hum Genet. 1995. PMID: 7635459
-
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Clin Diagn Lab Immunol. 1998 May;5(3):415-7. doi: 10.1128/CDLI.5.3.415-417.1998. Clin Diagn Lab Immunol. 1998. PMID: 9606003 Free PMC article.
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
