WACloss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

2015 ◽  
Vol 52 (11) ◽  
pp. 754-761 ◽  
Author(s):  
Cori DeSanto ◽  
Kristin D'Aco ◽  
Gabriel C Araujo ◽  
Nora Shannon ◽  
DDD Study ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Microdeletion Syndrome ◽  
Dysmorphic Features

scholarly journals Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

2008 ◽  
Vol 17 (5) ◽  
pp. 573-581 ◽  
Author(s):  
Sandesh Chakravarthy Sreenath Nagamani ◽  
Ayelet Erez ◽  
Christine Eng ◽  
Zhishuo Ou ◽  
Craig Chinault ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Developmental Delay ◽  
Interstitial Deletion ◽  
Microdeletion Syndrome ◽  
Dysmorphic Features

scholarly journals A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Kazuki Yamazawa ◽  
Kenji Shimizu ◽  
Hirofumi Ohashi ◽  
Hidenori Haruna ◽  
Satomi Inoue ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Retinal Disease ◽  
Recurrence Risk ◽  
Therapeutic Options ◽  
Loss Of Function ◽  
Childhood Onset ◽  
Microdeletion Syndrome ◽  
Dysmorphic Features ◽  
Inherited Retinal Disease ◽  
Retinal Disorder

Abstract2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. RP2-associated retinal disorder (RP2-RD) is an X-linked inherited retinal disease with a childhood onset caused by a loss-of-function variant in the RP2 gene. Here, we describe a 14-year-old boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-RD. The recurrence risk of each condition and the indication for potential therapeutic options for RP2-RD are discussed.

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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