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Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.

Abstract The methyl CpG-binding protein 2 duplication syndrome (OMIM #300260) is characterized by hypotonia, developmental delay, spasticity, seizures, and recurrent infections. It is fully penetrant in males and the females can have varied manifestations because of skewed X-inactivation. The size of the duplication can range from 0.2 Mb to over 100 Mb. Around 150 cases have been reported in the literature so far. Here, we report the unusual findings in three cases such as hepatomegaly, ataxia and females with mild intellectual disability that further expand the phenotypic spectrum of this disorder. This paper also stresses the need to perform microarray and/or multiplex ligation probe amplification in all cases of nonspecific intellectual disability.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title clinical dysmorphology
Publication Year Start




PMID- 28257338
OWN - NLM
STAT- MEDLINE
DA  - 20170303
DCOM- 20170315
LR  - 20170315
IS  - 1473-5717 (Electronic)
IS  - 0962-8827 (Linking)
VI  - 26
IP  - 2
DP  - 2017 Apr
TI  - Expansion of the phenotypic spectrum in three families of methyl CpG-binding
      protein 2 duplication syndrome.
PG  - 73-77
LID - 10.1097/MCD.0000000000000171 [doi]
AB  - The methyl CpG-binding protein 2 duplication syndrome (OMIM #300260) is
      characterized by hypotonia, developmental delay, spasticity, seizures, and
      recurrent infections. It is fully penetrant in males and the females can have
      varied manifestations because of skewed X-inactivation. The size of the
      duplication can range from 0.2 Mb to over 100 Mb. Around 150 cases have been
      reported in the literature so far. Here, we report the unusual findings in three 
      cases such as hepatomegaly, ataxia and females with mild intellectual disability 
      that further expand the phenotypic spectrum of this disorder. This paper also
      stresses the need to perform microarray and/or multiplex ligation probe
      amplification in all cases of nonspecific intellectual disability.
FAU - Moirangthem, Amita
AU  - Moirangthem A
AD  - Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical
      Sciences, Lucknow, Uttar Pradesh, India.
FAU - Tuteja Bhatia, Moni
AU  - Tuteja Bhatia M
FAU - Srivastava, Priyanka
AU  - Srivastava P
FAU - Mandal, Kausik
AU  - Mandal K
FAU - Rai, Archana
AU  - Rai A
FAU - Phadke, Shubha R
AU  - Phadke SR
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Clin Dysmorphol
JT  - Clinical dysmorphology
JID - 9207893
RN  - 0 (MECP2 protein, human)
RN  - 0 (Methyl-CpG-Binding Protein 2)
RN  - Lubs X-linked mental retardation syndrome
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Adolescent
MH  - Child
MH  - Fatal Outcome
MH  - Female
MH  - Humans
MH  - Infant
MH  - Male
MH  - Mental Retardation, X-Linked/*diagnosis/genetics
MH  - Methyl-CpG-Binding Protein 2/genetics
MH  - Phenotype
EDAT- 2017/03/04 06:00
MHDA- 2017/03/16 06:00
CRDT- 2017/03/04 06:00
AID - 10.1097/MCD.0000000000000171 [doi]
AID - 00019605-201704000-00003 [pii]
PST - ppublish
SO  - Clin Dysmorphol. 2017 Apr;26(2):73-77. doi: 10.1097/MCD.0000000000000171.

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