A terminal deletion of the short arm of chromosome 3: Karyotype 46, XY, del (3) (p25-pter); a case report and literature review

S. Kariya; K. Aoji; H. Akagi; K. Fukushima; E. Chikumoto; T. Ogawa; M. Karaki; K. Nishizaki

doi:10.1016/S0165-5876(00)00409-2

A terminal deletion of the short arm of chromosome 3: Karyotype 46, XY, del (3) (p25-pter); a case report and literature review

S. Kariya, K. Aoji, H. Akagi, K. Fukushima, E. Chikumoto, T. Ogawa, M. Karaki, K. Nishizaki

Research output: Contribution to journal › Article › peer-review

18 Citations (Scopus)

Abstract

We describe a boy with a deletion of the short arm of chromosome 3; (46, XY, del (3) (p25-pter) who presented several minor craniofacial anomalies at birth. Only 34 cases of small distal 3p deletion have been described in the literature, seven of them showed hearing loss and four of the 34 cases had brain anomalies. But in none of the 34 cases the middle and internal ear were radiographically examined. Despite the severe hearing loss detected by auditory brainstem evoked responses (ABR), computerized tomographic scanning (CT-scan) of the ear showed a normal anatomy in this patient. The head CT-scan and magnetic resonance imaging (MRI) disclosed a hypoplastic corpus callosum and an enlargement of the lateral ventricles. (C) 2000 Elsevier Science Ireland Ltd.

Original language	English
Pages (from-to)	71-78
Number of pages	8
Journal	International Journal of Pediatric Otorhinolaryngology
Volume	56
Issue number	1
DOIs	https://doi.org/10.1016/S0165-5876(00)00409-2
Publication status	Published - Nov 30 2000

Keywords

3p-Syndrome
Chromosome 3
Hearing loss
Malformation
Terminal deletion

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Otorhinolaryngology

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10.1016/S0165-5876(00)00409-2

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A terminal deletion of the short arm of chromosome 3 : Karyotype 46, XY, del (3) (p25-pter); a case report and literature review. / Kariya, S.; Aoji, K.; Akagi, H.; Fukushima, K.; Chikumoto, E.; Ogawa, T.; Karaki, M.; Nishizaki, K.

In: International Journal of Pediatric Otorhinolaryngology, Vol. 56, No. 1, 30.11.2000, p. 71-78.

Research output: Contribution to journal › Article › peer-review

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abstract = "We describe a boy with a deletion of the short arm of chromosome 3; (46, XY, del (3) (p25-pter) who presented several minor craniofacial anomalies at birth. Only 34 cases of small distal 3p deletion have been described in the literature, seven of them showed hearing loss and four of the 34 cases had brain anomalies. But in none of the 34 cases the middle and internal ear were radiographically examined. Despite the severe hearing loss detected by auditory brainstem evoked responses (ABR), computerized tomographic scanning (CT-scan) of the ear showed a normal anatomy in this patient. The head CT-scan and magnetic resonance imaging (MRI) disclosed a hypoplastic corpus callosum and an enlargement of the lateral ventricles. (C) 2000 Elsevier Science Ireland Ltd.",

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AB - We describe a boy with a deletion of the short arm of chromosome 3; (46, XY, del (3) (p25-pter) who presented several minor craniofacial anomalies at birth. Only 34 cases of small distal 3p deletion have been described in the literature, seven of them showed hearing loss and four of the 34 cases had brain anomalies. But in none of the 34 cases the middle and internal ear were radiographically examined. Despite the severe hearing loss detected by auditory brainstem evoked responses (ABR), computerized tomographic scanning (CT-scan) of the ear showed a normal anatomy in this patient. The head CT-scan and magnetic resonance imaging (MRI) disclosed a hypoplastic corpus callosum and an enlargement of the lateral ventricles. (C) 2000 Elsevier Science Ireland Ltd.

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A terminal deletion of the short arm of chromosome 3: Karyotype 46, XY, del (3) (p25-pter); a case report and literature review

Abstract

Keywords

ASJC Scopus subject areas

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