Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333)
| Autor: | F. A. Beemer, H. F. de France, I. J. M. Rosina-Angelista, L. J. Gerards, B. P. Cats, R. Guyt |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Cri-du-Chat Syndrome Heart Defects Congenital Male medicine.medical_specialty Monosomy Microcephaly Cri du Chat Syndrome Trisomy Bicuspid aortic valve Genetics medicine Humans Chromosomes Human 4-5 Lymphocytes Dermatoglyphics Child Genetics (clinical) Chromosomal inversion Gynecology business.industry Infant Newborn Infant Chromosome Karyotype medicine.disease Pedigree Karyotyping Chromosome Inversion Female Chromosome Deletion business |
| Zdroj: | Clinical Genetics. 26:209-215 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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