Literature DB >> 267527

Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy.

C I Kaye, C W Booth, D Meeker, H L Nadler.   

Abstract

Siblings with multiple congenital anomalies secondary to familial partial trisomy of chromosome number 13 are described. In addition to other findings, the younger child exhibited a cleft of the soft palate. The mechanism of transmission of the chromosomal abnormalities, the relationship of the physical abnormalities and the chromosome findings, and the significance of these findings in the consideration of recurrence risks in future pregnancies are discussed.

Entities:  

Mesh:

Year:  1977        PMID: 267527

Source DB:  PubMed          Journal:  Cleft Palate J        ISSN: 0009-8701


  5 in total

1.  Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q.

Authors:  M Habedank
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

2.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.

Authors:  Uppala Radhakrishna; Uppala Ratnamala; Mathew Gaines; Soraya Beiraghi; David Hutchings; Jeffrey Golla; Syed A Husain; Prakash S Gambhir; Jayesh J Sheth; Frenny J Sheth; Ghati K Chetan; Mohammed Naveed; Jitendra V Solanki; Uday C Patel; Dilipkumar C Master; Rafiq Memon; Gregory S Antonarakis; Stylianos E Antonarakis; Swapan K Nath
Journal:  Am J Hum Genet       Date:  2006-07-21       Impact factor: 11.025

4.  Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members.

Authors:  S Gilgenkrantz; C Defeche; S Stehlin; M J Gregoire
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors:  A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

  5 in total

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