Literature DB >> 7246546

New deletion syndrome: 1q43.

R C Juberg, N R Haney, R Stallard.   

Abstract

A male infant showed dysmorphology of the head and face, neck, extremities, and genitalia, as well as growth and mental retardation. His G-banded karyotype was 46,XY,--1+der(1),t(1;16)(q43;q24)mat. Combined with five previously reported cases involving similar terminal deletions beginning at 1q42 or 43, we show that the homology of phenotypic characteristics permits identification of a new deletion syndrome, the first involving chromosome 1.

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Mesh：

Year:  1981        PMID： 7246546      PMCID： PMC1685032     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  7 in total

1.  Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female.

Authors:  C B Mankinen; J W Sears; V R Alvarez
Journal:  Birth Defects Orig Artic Ser       Date:  1976

2.  Chromosome studies in 5,049 consecutive newborn children.

Authors:  U Friedrich; J Nielsen
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

3.  Cytogenetics of habitual abortion and other reproductive wastage.

Authors:  M A Stenchever; K J Parks; T L Daines; M A Allen; M R Stenchever
Journal:  Am J Obstet Gynecol       Date:  1977-01-15       Impact factor: 8.661

4.  Terminal deletion of (1)(q42) and its phenotypical manifestations.

Authors:  M Andrle; A Erlach; W R Mayr; A Rett
Journal:  Hum Genet       Date:  1978-02-23       Impact factor: 4.132

5.  [Long-arm deletion of chromosome 1: 46,XY, del (1) (Q42) (author's transl)].

Authors:  M Molina; J M Santolaya; G Saitua; M Hernández
Journal:  An Esp Pediatr       Date:  1978-10

6.  Terminal deletion of the long arm of chromosome 1 in a malformed newborn.

Authors:  E Kessel; R A Pfeiffer; W Blanke; J Schwarz
Journal:  Hum Genet       Date:  1978-06-27       Impact factor: 4.132

7.  Terminal long-arm deletion of chromosome 1 in a male infant.

Authors:  P S Dignan; S Soukup
Journal:  Hum Genet       Date:  1979-04-27       Impact factor: 4.132
  7 in total
  4 in total

1.  Terminal deletion of chromosome 1(q43) in a female infant.

Authors:  G P Garani; L Tamisari; S Volpato; V Vigi
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

Review 2.  A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

Authors:  Jörg Seidel; Anita Heller; Gabriele Senger; Heike Starke; Ilse Chudoba; Christina Kelbova; Holger Tönnies; Heidemarie Neitzel; Claudia Haase; Volkmar Beensen; Felix Zintl; Uwe Claussen; Thomas Liehr
Journal:  Eur J Pediatr       Date:  2003-06-19       Impact factor: 3.183

3.  A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea.

Authors:  Joo Hyun Cho; Eun Song Song; Hee Na Kim; Burm Seok Oh; Young Youn Choi
Journal:  Korean J Pediatr       Date:  2014-06-30

4.  Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay.

Authors:  Yiehen Tung; Haiying Lu; Wenxin Lin; Tingting Huang; Samuel Kim; Guo Hu; Gang Zhang; Guo Zheng
Journal:  Front Genet       Date:  2021-05-20       Impact factor: 4.599
  4 in total

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