Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature

2013 ◽  
Vol 161 (6) ◽  
pp. 1447-1452 ◽  
Author(s):  
Else la Cour Sibbesen ◽  
Cathrine Jespersgaard ◽  
Daniela Alosi ◽  
Anne-Marie Bisgaard ◽  
Zeynep Tümer
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Review Of The Literature ◽  
Dysmorphic Features

Progressive extensive osteoma cutis associated with dysmorphic features: a new syndrome? Case report and review of the literature

2002 ◽  
Vol 146 (6) ◽  
pp. 1075-1080 ◽  
Author(s):  
M.D.P. Davis ◽  
M.R. Pittelkow ◽  
N.M. Lindor ◽  
C.E. Lundstrom ◽  
L.A. Fitzpatrick
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Dysmorphic Features ◽  
Osteoma Cutis

scholarly journals Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

2021 ◽  
Vol 8 ◽  
Author(s):  
Justyna Paprocka ◽  
Magdalena Nowak ◽  
Maria Nieć ◽  
Izabela Janik ◽  
Małgorzata Rydzanicz ◽  
...  
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Congenital Malformations ◽  
Tumor Necrosis ◽  
Tumor Necrosis Factor Receptor ◽  
Germline Variants ◽  
Malformation Syndrome ◽  
Dysmorphic Features ◽  
Necrosis Factor ◽  
Congenital Malformation Syndrome

Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clinical and genetic spectrum associated with TRAF7 germline variants in two additional patients, broaden the mutational spectrum, and support the characteristic clinical variety to facilitate the diagnostics of the syndrome among physician involved in the evaluation of patients with developmental delay/congenital malformations.

Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature

2016 ◽  
Vol 148 (2-3) ◽  
pp. 165-173 ◽  
Author(s):  
Aswini Sivasankaran ◽  
Murthy K. Kanakavalli ◽  
Deenadayalu Anuradha ◽  
Chandra R. Samuel ◽  
Lakshmi R. Kandukuri
Keyword(s):  
Developmental Delay ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Deletion Syndrome ◽  
Chromosomal Microarray ◽  
Facial Dysmorphism ◽  
Chromosomal Microarray Analysis ◽  
Ring Chromosomes ◽  
Normal Fish

Ring chromosomes have been described for all human chromosomes and are typically associated with physical and/or mental abnormalities resulting from a deletion of the terminal ends of both chromosome arms. This report describes the presence of a ring chromosome 9 in a 2-year-old male child associated with developmental delay. The proband manifested a severe phenotype comprising facial dysmorphism, congenital heart defects, and seizures. The child also exhibited multiple cell lines with mosaic patterns of double rings, a dicentric ring and loss of the ring associated with mitotic instability and dynamic tissue-specific mosaicism. His karyotype was 46,XY,r(9)(p22q34)[89]/46,XY,dic r(9; 9)(p22q34;p22q34)[6]/45, XY,-9[4]/47,XY,r(9),+r(9)[1]. However, the karyotypes of his parents and elder brother were normal. FISH using mBAND probe and subtelomeric probes specific for p and q arms for chromosome 9 showed no deletion in any of the regions. Chromosomal microarray analysis led to the identification of a heterozygous deletion of 15.7 Mb from 9p22.3 to 9p24.3. The probable role of the deleted genes in the manifestation of the phenotype of the proband is discussed.

Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1

2011 ◽  
Vol 54 (2) ◽  
pp. 189-193 ◽  
Author(s):  
Regina M. Zambrano ◽  
Elizabeth Wohler ◽  
Göran Annerén ◽  
Ann-Charlotte Thuresson ◽  
Garry R. Cutting ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chromosome 9 ◽  
Derivative Chromosome ◽  
Unbalanced Translocation ◽  
Dysmorphic Features
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