Literature DB >> 537019

Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.

M D Crawfurd, I Kessel, M Liberman, J A McKeown, P Y Mandalia, M A Ridler.   

Abstract

Two cases of interstitial deletion of chromosome 7 are presented, one involving the short arm and the other the long arm. The cytogenetic, dermatoglyphic, and clinical findings are compared with previously reported cases of chromosome 7 deletion. The patient with a short arm deletion differs clinically from the previously reported cases but, in common with a least one previous case, has a low total finger ridge count. His interstitial deletion involving the 7p13 leads to 7p21 region also differs from 7p deletions reported in earlier cases. The patient with a long arm deletion has an interstitial loss of the region between 7q11 and 7q21, corresponding to one of three groups of 7q deletion that have been recognised. The phenotypic changes in this group are less well defined than in the other two and the patient presented here differs clinically from the previously reported cases, apart from one phenotypically normal mosaic case, in lacking morphological abnormalities. He shares with one previous case both epilepsy and a high intensity of dermal ridge patterns.

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Year:  1979        PMID: 537019      PMCID: PMC1012593          DOI: 10.1136/jmg.16.6.453

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


  19 in total

1.  The Colton blood groups in monosomy 7 of the bone marrow.

Authors:  A De la Chapelle; P Vuopio; R Sanger; P Teesdale
Journal:  Birth Defects Orig Artic Ser       Date:  1976

2.  A partial long arm deletion of chromosome 7:46,XY,del(7)(q32).

Authors:  B G Kousseff; L Y Hsu; S Paciuc; K Hirschhorn
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

3.  Finger prints and disease.

Authors:  F R CHERRILL
Journal:  Nature       Date:  1950-10-07       Impact factor: 49.962

4.  Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.

Authors:  G Higginson; D D Weaver; R E Magenis; G H Prescott; C Haag; D J Hepburn
Journal:  Clin Genet       Date:  1976-11       Impact factor: 4.438

5.  7q deletion syndrome (7q32 leads to 7qter).

Authors:  E L Harris; R S Wappner; C G Palmer; B Hall; N Dinno; M R Seashore; W R Breg
Journal:  Clin Genet       Date:  1977-10       Impact factor: 4.438

6.  Defective chemotaxis in monosomy-7.

Authors:  P Ruutu; T Ruutu; P Vuopie; T U Kosunen; A de la Chapelle
Journal:  Nature       Date:  1977-01-13       Impact factor: 49.962

7.  Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome.

Authors:  B T Gong; T H Norwood; H Hoehn; E McPherson; J G Hall; R Hickman
Journal:  Hum Genet       Date:  1976-12-29       Impact factor: 4.132

8.  [Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism].

Authors:  N Ayraud; J Rovinski; J C Lambert; A Galiana
Journal:  Ann Genet       Date:  1976-12

9.  Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter).

Authors:  P Franceschini; M C Silengo; G F Davi; M A Santoro; G Prandi; C Fabris
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

10.  Interstitial deletion of chromosome 7 detected in three unrelated patients.

Authors:  M Seabright; G M Lewis
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132

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  7 in total

Review 1.  Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Authors:  Beate Schmidt; Floris Udink ten Cate; Michael Weiss; Udo Koehler
Journal:  Eur J Pediatr       Date:  2012-07       Impact factor: 3.183

Review 2.  Genetic markers on chromosome 7.

Authors:  L C Tsui
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

3.  Chromosome 7 short arm deletion, 7p21----pter.

Authors:  M Schömig-Spingler; M Schmid; W Brosi; T Grimm
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

4.  Interstitial deletion of chromosome 7p detected antenatally.

Authors:  K Marks; L Hill; R G Chitham; W L Whitehouse
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

5.  A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.

Authors:  T Motegi; M Ohuchi; C Ohtaki; K Fujiwara; S Enomoto; T Hasegawa; K Kishi; H Hayakawa
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

6.  Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.

Authors:  A L Pettigrew; F Greenberg; C T Caskey; D H Ledbetter
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

7.  A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.

Authors:  K Fagan; A Gill; R Henry; I Wilkinson; B Carey
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

  7 in total

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