Literature DB >> 11140412

Trisomy 7p: report of 2 patients and literature review.

Y H Arens1, A Toutain, J J Engelen, J P Offermans, A J Hamers, J J Schrander, C F Pulles-Heintzberger, C T Schrander-Stumpel.   

Abstract

Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.

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Year:  2000        PMID: 11140412

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  5 in total

1.  Sp8 is crucial for limb outgrowth and neuropore closure.

Authors:  Sheila M Bell; Claire M Schreiner; Ronald R Waclaw; Kenneth Campbell; S Steven Potter; William J Scott
Journal:  Proc Natl Acad Sci U S A       Date:  2003-10-02       Impact factor: 11.205

Review 2.  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

3.  Greater trochanteric stippling in trisomy 7p.

Authors:  Justin R Wilde; Rita L Teele; Salim Aftimos
Journal:  Pediatr Radiol       Date:  2006-06-07

4.  Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family.

Authors:  Gopalrao V N Velagaleti; Judy C Hawkins; Neli I Panova; Lillian H Lockhart
Journal:  Indian J Pediatr       Date:  2008-09       Impact factor: 1.967

5.  De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.

Authors:  Achandira M Udayakumar; Watfa Al-Mamari; Abeer Al-Sayegh; Adila Al-Kindy
Journal:  Sultan Qaboos Univ Med J       Date:  2015-08-24
  5 in total

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