Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 ? q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay

2005 ◽  
Vol 132A (4) ◽  
pp. 419-424 ◽  
Author(s):  
G. Barbi ◽  
Ch. Spaich ◽  
S. Adolph ◽  
E. Rossier ◽  
H. Kehrer-Sawatzki
Keyword(s):  
Developmental Delay ◽  
Marker Chromosome ◽  
Ring Chromosome ◽  
Chromosome 1 ◽  
Substantial Loss ◽  
Dysmorphic Features

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

Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association

2015 ◽  
Vol 146 (2) ◽  
pp. 120-123 ◽  
Author(s):  
Madhavan Jeevan Kumar ◽  
Rangasamy Ashok Kumar ◽  
Venugopal Subhashree ◽  
Thanikachalam Jayasudha ◽  
Venkatasubramanian Hemagowri ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Marker Chromosome ◽  
Ring Chromosome ◽  
Class Ii ◽  
Normal Chromosome ◽  
Chromosome 7 ◽  
Acentric Fragment ◽  
Aberrant Chromosome ◽  
Dysmorphic Features

A neocentromere is a functional centromere that has arisen within a region not known to have a centromere. We present a case with a very rarely reported class II neocentromere formation in an aberrant chromosome 7. A 22-month-old male was referred because of dysmorphic features. Banding cytogenetics was performed, and a ring 7 and a supernumerary marker chromosome along with a normal chromosome 7 were found. In situ hybridization using a centromeric probe revealed 46 signals, of which 2 signals for chromosome 7 were observed, one on the normal and one on the ring chromosome. Further analysis using FISH revealed that the linear acentric fragment was part of the 7q region, which suggests that there could be a possible McClintock mechanism.

scholarly journals Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.

1995 ◽  
Vol 32 (8) ◽  
pp. 636-637 ◽  
Author(s):  
J S Barton ◽  
J O'Loughlin ◽  
R T Howell ◽  
R L'e Orme
Keyword(s):  
Developmental Delay ◽  
Chromosome 1 ◽  
Dysmorphic Features

scholarly journals Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

2018 ◽  
Vol 93 (4) ◽  
pp. 752-761 ◽  
Author(s):  
Z. Powis ◽  
K.D. Farwell Hagman ◽  
C. Mroske ◽  
K. McWalter ◽  
J.S. Cohen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay ◽  
Dysmorphic Features ◽  
Reduced Penetrance

scholarly journals 1q44 microdeletion syndrome: A new case with potential additional features

2021 ◽  
Vol 16 (1) ◽  
pp. 92-96
Author(s):  
Elena-Silvia SHELBY ◽  
◽  
Tanser HUSEYINOGLU ◽  
Georgeta CARDOS ◽  
Liliana PADURE ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Grey Matter ◽  
Chromosome 1 ◽  
Global Developmental Delay ◽  
Microdeletion Syndrome ◽  
Genetic Syndrome ◽  
Skeletal Involvement ◽  
Craniofacial Dysmorphism ◽  
Prenatal Hydronephrosis ◽  
One Year

1q44 microdeletion syndrome (1q44 monosomy) is a newly described genetic syndrome characterized by the haploinsufficiency of a 6 Mb locus on the long arm of chromosome 1. The main features are global developmental delay, seizures, hypotonia and craniofacial dysmorphism. With a prevalence below one in a million cases, this syndrome is very rare and, hence, often passes undiagnosed. We present the case of a one year old girl admitted to our hospital with global developmental delay and several congenital abnormalities suggesting a plurimalformative syndrome. Microarray analysis detected a 967 kb deletion in the 1q44 region as well as a a 530 kb microduplication in the 14q31.1q31.2 region, the latter having unknown clinical significance as it contains no currently known OMIM genes. The patient’s phenotype was in accordance to 1q44 microdeletion syndrome. Furthermore, after studying the 1q44 microdeletion syndrome cases reported so far in the literature, we have noticed that our patient presented previously undescribed features of this syndrome, namely prenatal hydronephrosis, bifid hallux and grey matter heterotopy. Based on the cerebral, renal and skeletal involvement in 1q44 microdeletion syndrome, we suspect these might be additional, previously unreported features of 1q44 microdeletion syndrome.

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