Obesity syndrome, MOMES caused by deletion–duplication (4q35.1 del and 5p14.3 dup)

Haelst, Mieke M. van; Wang, Rubin; Kantaputra, Piranit Nik; Palmer, Rodger; Beales, P. E.

doi:10.1002/ajmg.a.32722

Cited by 5 publications

(2 citation statements)

References 8 publications

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“…The deletion on 1q44 is thought to encompass multiple genes in the region, and thus, the manifestations are a result of the contiguous gene deletion and no specific genes have been implicated. Duplication of 5p-p14.3 has been reported in two sisters with ID, obesity, mandibular prognathism with eye and skin anomalies2021. The Wolf-Hirschhorn syndrome (WHS) critical region is located in 4p16.3.…”

Section: Discussionmentioning

confidence: 99%

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay

Mohan¹,

Koshy²,

Vekatachalam³

et al. 2016

Indian Journal of Medical Research

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Background & objectives:Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD). We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD.Methods:One hundred and twenty seven children with idiopathic ID/DD were tested for subtelomeric rearrangements using karyotyping and FISH. Blood samples were cultured, harvested, fixed and GTG-banded using the standard protocols.Results:Rearrangements involving the subtelomeres were observed in 7.8 per cent of the tested samples. Detection of rearrangements visible at the resolution of the karyotype constituted 2.3 per cent, while those rearrangements detected only with FISH constituted 5.5 per cent. Five deletions and five unbalanced translocations were detected. Analysis of parental samples wherever possible was informative regarding the inheritance of the rearrangement.Interpretation & conclusions:The frequency of subtelomeric rearrangements observed in this study was within the reported range of 0-35 per cent. All abnormal genotypes were clinically correlated. Further analysis with array technologies presents a future prospect. Our results suggest the need to test individuals with ID/DD for subtelomeric rearrangements using sensitive methods such as FISH.

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Section: Discussionmentioning

confidence: 99%

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay

Mohan¹,

Koshy²,

Vekatachalam³

et al. 2016

Indian Journal of Medical Research

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“…MOMO syndrome overlaps with MOMES syndrome (Mental retardation, Obesity, Mandibular prognathism, Eye and Skin abnormalities) [Kantaputra et al, 2001]. A unique combination of a 7 Mb 4q35.1‐4qter deletion and a 20 Mb 5p14.3‐5pter duplication contribute to the clinical features of MOMES syndrome [van Haelst et al, 2009]. Nevo syndrome is proposed as a differential diagnosis to MOMO syndrome (POSSUM‐web, dysmorphology database).…”

Section: Discussionmentioning

confidence: 99%

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

Donato

Rieß

Hackmann

et al. 2012

American J of Med Genetics Pt A

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MOMO syndrome, previously defined as Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities (OMIM 157980) is a rare intellectual disability syndrome of unknown cause. We describe two further patients with MOMO syndrome. Reported data of patients with MOMO syndrome and our own findings indicate that overgrowth does not appear to be a specific feature. We propose to form the acronym "MOMO" from Macrocephaly, Obesity, Mental (intellectual) disability, and Ocular abnormalities, excluding macrosomia from the syndrome name. The combination of obesity, macrocephaly, and colobomas is unique, therefore these features can be used as major diagnostic criteria of MOMO syndrome.

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Syndromic obesity with neurodevelopmental delay: Opportunities for targeted interventions

Kehinde

Bhatia²,

Olarewaju

et al. 2022

European Journal of Medical Genetics

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Obesity syndrome, MOMES caused by deletion–duplication (4q35.1 del and 5p14.3 dup)

Cited by 5 publications

References 8 publications

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

Syndromic obesity with neurodevelopmental delay: Opportunities for targeted interventions

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