Literature DB >> 7215384

13q-/r(13) mosaicism.

T Tamura, M Umetsu, H Motoya, N Niikawa.   

Abstract

A 2-month-old female infant with typical features of the 13q- syndrome was found to be a hitherto unreported mosaic consisting of 46,XX,del (13)(q22)/46,XX,r(13)(p13q22). She has not been able to maintain normal values of serum Na and Cl since the second day of life: this may be induced by cerebral dysgenesis.

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Year:  1981        PMID： 7215384     DOI： 10.1007/bf00441721

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  6 in total

1.  D13 ring chromosome syndrome.

Authors:  A Mccandless; S Walker
Journal:  Arch Dis Child       Date:  1976-06       Impact factor: 3.791

2.  Ring chromosome D (13) associated with multiple congenital malformations.

Authors:  E Niebuhr; J Ottosen
Journal:  Ann Genet       Date:  1973-09

3.  Familial holoprosencephaly with endocrine dysgenesis.

Authors:  R L Hintz; M Menking; J F Sotos
Journal:  J Pediatr       Date:  1968-01       Impact factor: 4.406

4.  The behavior of ring chromosome 13.

Authors:  J J Hoo; U Obermann; H Cramer
Journal:  Humangenetik       Date:  1974

5.  Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors:  B Noel; B Quack; M O Rethore
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438

6.  Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome.

Authors:  R S Verma; H Dosik; I H Chowdhry; R C Jhaveri
Journal:  Am J Dis Child       Date:  1978-10
  6 in total

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