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A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.

Abstract：

:1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.

journal_name

Cytogenet Genome Res

journal_title

Cytogenetic and genome research

authors

Lloveras E,Canellas A,Barranco L,Alves C,Vila-Real M,Ventura V,Fernández D,Mendez B,Piqué M,Reis-Lima M,de la Iglesia C,Palau N,Costa M,Yeste D,Auge M,Perez C

doi

10.1159/000504424

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

126-129

issue

3

eissn

1424-8581

issn

1424-859X

pii

000504424

journal_volume

159

pub_type

杂志文章

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