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Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion
Author(s) -
Devriendt K.,
Hoestenberghe R. Van,
Hole C. Van,
Devlieger H.,
Gewillig M.,
Moerman Ph.,
Berghe H.,
Fryns J. P.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02463.x
Subject(s) - digeorge syndrome , hypoparathyroidism , chromosome , genetics , deletion syndrome , biology , chromosome 22 , phenotype , endocrinology , gene
A submicroscopic deletion of chromosome 22q11 was demonstrated in three triplets and in their father. Two children had the typical DiGeorge sequence with at least three of the four cardinal features: conotruncal heart disease, hypoplastic thymus and typical facial features. Hypoparathyroidism was present in one of them. The third child had features of both DiGeorge and velo‐cardio‐facial syndrome (VCFS). The father presented with features compatible with VCFS. This observation further illustrates the wide variability in expression of a submicroscopic deletion of 22q11, even within one family.