Literature DB >> 669715

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

E Kessel, R A Pfeiffer, W Blanke, J Schwarz.   

Abstract

Microcephaly and craniofacial dysmorphia, cleft palate, cardiac malformation, and hypospadias are observed in a child with 46,XY,del (1)(q42).

Entities:  

Mesh：

Year:  1978        PMID： 669715     DOI： 10.1007/BF00291316

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  7 in total

1.  RING-1 CHROMOSOME AND MICROCEPHALIC DWARFISM.

Authors:  R R GORDON; P COOKE
Journal:  Lancet       Date:  1964-12-05       Impact factor: 79.321

2.  Partial trisomy of the long arm of human chromosome 1 as demostrated by in situ hybridization with 5S ribosomal RNA.

Authors:  D M Steffensen; E H Chu; D P Speert; P M Wall; K Meilinger; R P Kelch
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

3.  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

4.  Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32).

Authors:  M Koivisto; H K Akerblom; M Remes; A de La Chapelle
Journal:  Acta Paediatr Scand       Date:  1976-07

5.  [De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child].

Authors:  C Turleau; M Roubin; F Chavin-Colin; M Satge; J de Grouchy
Journal:  Ann Genet       Date:  1974-12

6.  Ring-1 chromosome, microcephalic dwarfism, and acute myeloid leukemia.

Authors:  M Bobrow; P M Emerson; A I Spriggs; H L Ellis
Journal:  Am J Dis Child       Date:  1973-08

7.  Ring 1 chromosome and dwarfism--a possible syndrome.

Authors:  C B Wolf; J A Peterson; G A LoGrippo; L Weiss
Journal:  J Pediatr       Date:  1967-11       Impact factor: 4.406
  7 in total
  3 in total

1.  New deletion syndrome: 1q43.

Authors:  R C Juberg; N R Haney; R Stallard
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025

2.  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

3.  Chromosomes of human sperm: variability among normal individuals.

Authors:  B Brandriff; L Gordon; L Ashworth; G Watchmaker; D Moore; A J Wyrobek; A V Carrano
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  3 in total

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