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Deletion of the long arm of chromosome 6: two new patients and literature review
Author(s) -
Evers L. J. M.,
SchranderStumpel C. T. R. M.,
Engelen J. J. M.,
Hoorntje T. M.,
PullesHeintzberger C. F. M.,
Schrander J. J. P.,
Albrechts J. C. M.,
Peters J.,
Fryns J. P.
Publication year - 1996
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.1399-0004.1996.tb02368.x
Subject(s) - cosmid , long arm , monosomy , genetics , facial dysmorphism , girl , chromosome , medicine , karyotype , biology , gene , phenotype
Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46, XX, del(6)(q16.2q23.1)], and a boy with a terminal deletion [46, XY, del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.