ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary Mosaicism for an extra chromosome 9 was found in an underweight male newborn with multiple malformations. Clinical findings included a peculiar face with hypertelorism, mongoloid position of the eyes, narrow palpebral fissures, enophthalmos, broadbased nose with bulbous tip, high-arched palate, short mandible, dysmorphic ears with a unilateral preauricular tag, thoracic kyphosis, 13 ribs bilaterally, cryptorchidism, flexion position of the hands and fingers, muscular hypotonia, and severe psychomotor retardation. An additional chromosome 9 was found in half of the lymphocyte mitoses, but not in fibroblasts. In addition, pericentric inversion of the heterochromatic segment of 1 chromosome 9 was found in the mother and the diploid cells of the patient; the patient's trisomic cells exhibited 2 inversion chromosomes.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00281424
Permalink