ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary A mentally retarded boy with trisomy 9p is described. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in his mother, who has a complex translocation involving chromosomes 9, 13, and 14. Based on both G-, Q-banding, and DNA replication patterns, the patient's karyotype was identified as 47,XY,-13, +(9;13) (9pter→9q12::13q31→13qter), +t(13;14) (13pter→13q31::14pl?→14pter). We suppose his mother's karyotype to be 46,XX,-9,-13,-14,+t(9;13) (9pter→q12::13q31→13qter), +t(13;14) (13pter→13q31::14pl?→14pter), +t(9;14) (9qter→9q12::14pl?→14qter). His phenotypically normal brother and sister are also carriers, having the same translocation chromosome as their mother. Clinical findings of the patient included peculiar face with hypertelorism, prominent nasal bridge and deformed helix, marked delay of osseous development, hypoplastic phalangia in fingers and toes, dysplastic nails and absence of digital triradii.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00283308
Permalink