ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary A 10-month-old Japanese boy who had interstitial deletion of the long arm of chromosome No. 14; 46,XY, del(14)(pter»q24.3::q32.1»qter) is reported. A peculiar facial appearance, including round face, frontal hypertrichosis with thick eyebrows, horizontal narrow palpebral fissures, a short bulbous nose with a flat nasal root, and mild micrognathia, appeared to be common with the two previously reported cases. We stress the significance of this peculiar facial appearance in the diagnosis of 14q-(q24.3 to q32.1) syndrome. The level of α1-antitrypsin in the patient was only about half of that of his parents and controls, and the Pi locus was tentatively assigned to band 14q32.1.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00282092
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