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Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333)
Author(s) -
Beemer F. A.,
France H. F. de,
RosinaAngelista I. J. M.,
Gerards L. J.,
Cats B. P.,
Guyt R.
Publication year - 1984
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.1399-0004.1984.tb04369.x
Subject(s) - monosomy , chromosomal inversion , trisomy , karyotype , microcephaly , genetics , partial trisomy , biology , chromosome , gene
A family is described in which the mother's 9 pregnancies ended in the birth of 2 healthy girls, 4 spontaneous abortions and 3 infants with multiple congenital malformations as bird‐headed appearance, pre‐ and postnatal growth deficiency, microcephaly, micrognathia with small mouth and cat‐like cry. Two of the three affected sibs had complex cardiac malformations incompatible with life; the third had a bicuspid aortic valve. Chromosomal investigation revealed an abnormal karyotype: 46,XX, rec(S),dupq, inv(5)(p151q333)pat, leading to a partial monosomy 5p and partial trisomy 5q. A large pericentric inversion of chromosome 5 was found in the father: 46,XY, inv(5)(p151q333) as well as in the firstborn healthy female sib. The clinical features partly fit the partial monosomy 5p as well as the partial trisomy 5q syndrome.