A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: A new patient with 3.2 Mb deletion

Liang, J-S; Shimojima, K; Ohno, K; Sugiura, C; Une, Y; Ohno, K; Yamamoto, T

doi:10.1136/jmg.2008.059220

Cited by 42Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: A new patient with 3.2 Mb deletion

Liang, J-S, Shimojima, K, Ohno, K, Sugiura, C, Une, Y, Ohno, K, Yamamoto, T·2009·Journal of Medical Genetics

DOI 10.1136/jmg.2008.059220

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Abstract

A newly recognised 2p15–16.1 microdeletion syndrome has been reported by Rajcan-Separovic et al .1 Their study reported two patients with 2p15–16.1 deletions of 4.5 Mb and 5.7 Mb, respectively. Subsequently, de Leeuw et al and Chabchoub et al reported new patients with deletions of 3.9 Mb and 570 Kb, respectively.2 3 The current study examines another patient with a microdeletion in the same chromosomal region. A 4.5-year-old girl was referred to our institution because of severe psychomotor developmental delay. Due to growth obstruction during the mother’s pregnancy, caesarean section was performed at 37 weeks and 6 days of gestation. Her measurements at birth were as follows: weight 2020 g (−2.7 SD); length 44 cm (−2.5 SD); head circumference 32.4 cm (−0.5 SD). Intrauterine growth retardation had been diagnosed at 24 weeks gestation. There was no asphyxic event during delivery, there were no feeding problems, and her body weight gain was within the expected range during infancy. There was no family history of 2p15–16.1 microdeletion syndrome characteristics. She was the first child of healthy parents without consanguinity. Upon admittance, physical examination revealed growth retardation, with a height of 94 cm (−2.1 SD), a weight of 16 kg (−0.1 SD), and a head circumference of 47 cm (−2.0 SD). Dysmorphic facial features were noted, including hypertelorism, epicanthic fold, broad nasal bridge, retrognathia, and low set ears (fig 1A). Neurological examination revealed generalised muscular hypotonus and metatarsus adductovarus (fig 1B). At the time of examination, the patient could crawl but could not walk unassisted …

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Authors: Liang, J.-S., Shimojima, K., Ohno, K., Sugiura, C., Une, Y., Ohno, K., & Yamamoto, T.
Affiliations: Tokyo Women's Medical University (JP)
Tottori University (JP)
Corresponding author: Yamamoto, T
ORCID: Yamamoto, T
Venue: Journal of Medical Genetics
Publisher: BMJ
Published: 2009-09
Volume: 46
Issue: 9
Pages: 645-647
ISSN: 0022-2593 (ISSN-L)
1468-6244
DOI: 10.1136/jmg.2008.059220
OpenAlex: W2032727691
Cited by: 42
References: 7
Citations by year: 2025: 1 · 2024: 3 · 2023: 2 · 2022: 2 · 2021: 1 · 2019: 2 · 2018: 4 · 2017: 2 · 2016: 3 · 2015: 4 · 2014: 3 · 2013: 6 · 2012: 3
FWCI: 1.75
Type: journal article
Language: en
Open access: closed
Locations: Journal of Medical Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: developmental delay, autism spectrum disorder, short stature, microcephaly, facial dysmorphism, hypertelorism, metatarsus adductus, fetal growth restriction, hypotonia, psychomotor delay
MeSH terms: Abnormalities, Multiple, Autistic Disorder, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 2, Female, Humans, Male, Microcephaly, Chromosome Disorders, Comparative Genomic Hybridization

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A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: A new patient with 3.2 Mb deletion

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