Literature DB >> 2671374

De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.

F Speleman1, M Craen, J Leroy.   

Abstract

A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.

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Year:  1989        PMID： 2671374      PMCID： PMC1015678          DOI： 10.1136/jmg.26.8.528

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


  10 in total

1.  De novo del(7)(pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome.

Authors:  L García-Esquivel; D García-Cruz; H Rivera; M L Plascencia; J M Cantú
Journal:  Ann Genet       Date:  1986

2.  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

3.  Giant satellites or translocation?

Authors:  M G Wilson; A Fujimoto; N W Shinno; J W Towner
Journal:  Cytogenet Cell Genet       Date:  1973

4.  Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21.

Authors:  M Miller; G Kaufman; G Reed; R Bilenker; A Schinzel
Journal:  Am J Med Genet       Date:  1979

5.  Ring chromosome 7 with variable phenotypic expression.

Authors:  E H Zackai; W R Breg
Journal:  Cytogenet Cell Genet       Date:  1973

6.  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

7.  A girl with karyotype 46,XX,del(7)(qter-p 15:).

Authors:  U Friedrich; T Lyngbye; J Oster
Journal:  Humangenetik       Date:  1975

8.  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

9.  Mental retardation, malformation syndrome andpartial 7p monosomy [45, XX, tdic (7;15) (p21;p11)].

Authors:  Y Nakagome; F Teramura; K Katoaka; F Hosono
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438

10.  De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis.

Authors:  J P Fryns; M Haspeslagh; A Agneessens; H van den Berghe
Journal:  Ann Genet       Date:  1985
  10 in total
  4 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.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

3.  The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus.

Authors:  K Tsuji; K Narahara; Y Yokoyama; K H Grzeschik; J Kunz
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

4.  The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

Authors:  L A Brueton; L van Herwerden; K A Chotai; R M Winter
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318
  4 in total

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