Literature DB >> 6616953

Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23).

P Chieri, N Iölster.   

Abstract

A new case of partial monosomy 10q is described. The clinical symptoms are similar to the previous cases reported, although the segment lost is larger (q23-qter). The mother was a balanced carrier of 46,XX,t(10;8)(q23;p23). Amniocentesis was carried out since the mother was again pregnant and the result was a female fetus 46,XX,t(10;8)(q23;p23).

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Year:  1983        PMID： 6616953     DOI： 10.1111/j.1399-0004.1983.tb02226.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

Review 1.  Interstitial deletion of chromosome 10q23: a new case and review.

Authors:  S A Farrell; W Szymonowicz; G Chow; A M Summers
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

2.  Terminal deletion of the long arm of chromosome 10.

Authors:  H Curtis; R T Howell; C Cope
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

3.  Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

Authors:  J Brusnický; K M van Heerden; G de Jong; A S Cronjé; A E Retief
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

4.  A case of interstitial deletion of 10q25.2----q26.1.

Authors:  D E Rooney; K Williams; D V Coleman; A Habel
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

5.  Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Authors:  Jill A Rosenfeld; Blake C Ballif; Donna M Martin; Arthur S Aylsworth; Bassem A Bejjani; Beth S Torchia; Lisa G Shaffer
Journal:  Hum Genet       Date:  2010-04       Impact factor: 4.132

6.  Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.

Authors:  Kyung Ran Jun; Reinhard Ullmann; Saadullah Khan; Lawrence C Layman; Hyung-Goo Kim
Journal:  Mol Cytogenet       Date:  2014-08-19       Impact factor: 2.009
  6 in total

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