Literature DB >> 1518027

Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.

M M Lai1, P N Scriven, C Ball, A C Berry.   

Abstract

We report a case of monosomy for the distal region of the short arm of chromosome 10 (p13----ter) associated with trisomy for the terminal region of the long arm of chromosome 5 (q35.2----ter) that had originated from adjacent 1 segregation of a maternal reciprocal balanced translocation (5;10)(q35.2;p13). We review the clinical findings of previously reported cases of both partial monosomy for 10p and of partial trisomy for 5q, but to our knowledge there are no previous reports of the effects of these two chromosome anomalies together. Clinically our patient showed features typical of partial monosomy for 10p (including hypothyroidism) rather than partial trisomy 5q.

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Year:  1992        PMID： 1518027      PMCID： PMC1016069          DOI： 10.1136/jmg.29.8.586

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  DiGeorge anomaly associated with 10p deletion.

Authors:  G Monaco; C Pignata; E Rossi; O Mascellaro; S Cocozza; F Ciccimarra
Journal:  Am J Med Genet       Date:  1991-05-01

2.  [Reciprocal syndromes caused by deficiency duplication resulting from maternal t(10;18)(p12;q22) translocation].

Authors:  M O Rethoré; M Prieur; M C de Blois; J Naffah; A Ravel; E Villain; J Lejeune
Journal:  Ann Genet       Date:  1985

3.  Partial monosomy 10p syndrome.

Authors:  R Koenig; E Kessel; W Schoenberger
Journal:  Ann Genet       Date:  1985

4.  [Partial monosomy of the short arm of chromosome 10, associated with Rieger's syndrome and a Di George type partial immunodeficiency].

Authors:  J Hervé; J F Warnet; E Jeaneau-Bellego; M F Portnoi; J L Taillemitte; F Hervé
Journal:  Ann Pediatr (Paris)       Date:  1984-01

5.  A child trisomic for the distal part of chromosome 14q.

Authors:  G Bridgman; L J Butler
Journal:  Arch Dis Child       Date:  1980-06       Impact factor: 3.791

6.  Partial trisomy 5q: three different phenotypes depending on different duplication segments.

Authors:  A Rodewald; M Zankl; E O Gley; K D Zang
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Authors:  F Greenberg; F F Elder; P Haffner; H Northrup; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

8.  Partial monosomy of chromosome 10 short arms.

Authors:  A Gencík; U Brönniman; R Tobler; P Auf der Maur
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318
  8 in total
  2 in total

Review 1.  Genetic Disorders of Parathyroid Development and Function.

Authors:  Rebecca J Gordon; Michael A Levine
Journal:  Endocrinol Metab Clin North Am       Date:  2018-10-12       Impact factor: 4.741

2.  De novo Xp terminal deletion in a triple X female with recurrent spontaneous abortions: a case report.

Authors:  Tahir M Malla; Arshad A Pandith; Fayaz A Dar; Mahrukh H Zargar; Zafar A Shah
Journal:  J Genet       Date:  2014-12       Impact factor: 1.166
  2 in total

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