Literature DB >> 3070043

Eleven new cases of del(9p) and features from 80 cases.

J L Huret1, C Leonard, B Forestier, M O Rethoré, J Lejeune.   

Abstract

We report 11 cases of del(9p) and review 69 previously published ones. Of the 80 cases, 39 have a del(9p) as the sole anomaly. The symptoms are typical and diagnosis should be suspected at birth. The sex ratio does not appear to be unbalanced. A cardiac murmur is often present but surgery is rarely necessary. Mean IQ is 48. The number of reported cases with an associated trisomy has previously been underestimated. Death in infancy, owing mainly to gross visceral malformations, occurs more often in cases of del(9p) with another unbalanced chromosome segment (16/41) than in cases of del(9p) as the sole anomaly (1/39).

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Year:  1988        PMID: 3070043      PMCID: PMC1051577          DOI: 10.1136/jmg.25.11.741

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


  51 in total

1.  [Partial deletion of the short arm of the chromosome 9].

Authors:  F Serville; D Allain; A Broustet; C Martin; M Gachet; J P Babin; J Cenraud
Journal:  Ann Genet       Date:  1976-06

2.  The 9p- syndrome.

Authors:  O S Alfi; G N Donnell; P W Allderdice; A Derencsenyi
Journal:  Ann Genet       Date:  1976-03

3.  The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation.

Authors:  E Orye; H Verhaaren; A M Van den Bogaert-Van Heesvelde
Journal:  Clin Genet       Date:  1975-11       Impact factor: 4.438

4.  Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

5.  A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

Authors:  M Jotterand; E Juillard
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

6.  9pter leads p22 deletion syndrome: a case report.

Authors:  P W Allderdice; W D Heneghan; E T Felismino
Journal:  Birth Defects Orig Artic Ser       Date:  1976

7.  46, Del (9) (22:), a new deletion syndrome.

Authors:  O S Alfi; R G Sanger; A E Sweeny; G N Donnell
Journal:  Birth Defects Orig Artic Ser       Date:  1974

8.  [Monosomy for the centromeric regions of chromosome 21].

Authors:  M O Rethoré; B Dutrillaux; G Baheux; J Gerveaux; J Lejeune
Journal:  Exp Cell Res       Date:  1972-02       Impact factor: 3.905

9.  C-group chromosome abnormality (? 10p-). Occurrence in a child with multiple malformations.

Authors:  D Elliott; G H Thomas; C J Condron; N Khuri; F Richardson
Journal:  Am J Dis Child       Date:  1970-01

10.  Partial trisomy 5 with a carrier parent t(5p-;9p+).

Authors:  P Monteleone; J Monteleone; G Sekhon; W Hamilton; S L Volk; J Grzegocki; M Tietjens
Journal:  Clin Genet       Date:  1976-04       Impact factor: 4.438

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  29 in total

1.  Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.

Authors:  L A Christ; C A Crowe; M A Micale; J M Conroy; S Schwartz
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl.

Authors:  Walid Al Achkar; Abdulsamad Wafa; Faten Moassass; Thomas Liehr
Journal:  Mol Cytogenet       Date:  2010-10-04       Impact factor: 2.009

3.  Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.

Authors:  T Ogata; K Muroya; N Matsuo; J Hata; Y Fukushima; Y Suzuki
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

4.  A mild phenotype associated with der(9)t(3;9) (p25;p23).

Authors:  R J McClure; N Telford; S J Newell
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

5.  Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

Authors:  Érika L Freitas; Susan M Gribble; Milena Simioni; Társis P Vieira; Roseane L Silva-Grecco; Marly A S Balarin; Elena Prigmore; Ana C Krepischi-Santos; Carla Rosenberg; Karoly Szuhai; Arie van Haeringen; Nigel P Carter; Vera Lúcia Gil-da-Silva-Lopes
Journal:  Am J Med Genet A       Date:  2011-09-21       Impact factor: 2.802

Review 6.  Familial translocation t(9;16).

Authors:  C Dowman; D Lockwood; J Allanson
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

7.  A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.

Authors:  Ali Vahabi; Filiz Hazan; Isa Abdi Rad
Journal:  Maedica (Bucur)       Date:  2017-01

8.  Familial half cryptic translocation t(9;17).

Authors:  A Köhler; J Hain; U Müller
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

9.  Deletion 9p and sex reversal.

Authors:  C P Bennett; Z Docherty; S A Robb; P Ramani; J R Hawkins; D Grant
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

10.  Clinical and neuroradiological features of the 9p deletion syndrome.

Authors:  Peter Spazzapan; Eric Arnaud; Genevieve Baujat; Mathilde Nizon; Valerie Malan; Francis Brunelle; Federico Di Rocco
Journal:  Childs Nerv Syst       Date:  2015-11-23       Impact factor: 1.475

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