ISSN:
1435-232X
Keywords:
translocation 14∶22
;
monosomy 22q11.1
;
DiGeorge syndrome
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary We report a boy with some clinical symptoms compatible with a diagnosis of incomplete DiGeorge syndrome. He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome. High-resolution banding analysis revealed that his karyotype was 45,XY,−14,−22,+der(14)(14pter→14q32.32::22q11.21→22qter), the consequence of a maternal reciprocal translocation between chromosomes 14 and 22. Precise localization of the gene responsible for the present DiGeorge syndrome was assigned to subband 22q11.1.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01900727
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