Ring chromosome 7: report of the fifth case.

Abstract:

:A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.

journal_name

Eur J Pediatr

authors

Caramia GM,Baroncini A,Osimani P,Forabosco A

doi

10.1007/BF01959398

subject

Has Abstract

pub_date

1990-04-01 00:00:00

pages

475-6

issue

7

eissn

0340-6199

issn

1432-1076

journal_volume

149

pub_type

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