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 | |
| Publication status | Published - Nov 30 2000 |
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Keywords
- 3p-Syndrome
- Chromosome 3
- Hearing loss
- Malformation
- Terminal deletion
ASJC Scopus subject areas
- Otorhinolaryngology
- Pediatrics, Perinatology, and Child Health
- Pulmonary and Respiratory Medicine
- Surgery
Cite this
A terminal deletion of the short arm of chromosome 3 : Karyotype 46, XY, del (3) (p25-pter); a case report and literature review. / Kariya, Shin; Aoji, K.; Akagi, H.; Fukushima, K.; Chikumoto, E.; Ogawa, T.; Karaki, M.; Nishizaki, Kazunori.
In: International Journal of Pediatric Otorhinolaryngology, Vol. 56, No. 1, 30.11.2000, p. 71-78.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A terminal deletion of the short arm of chromosome 3
T2 - Karyotype 46, XY, del (3) (p25-pter); a case report and literature review
AU - Kariya, Shin
AU - Aoji, K.
AU - Akagi, H.
AU - Fukushima, K.
AU - Chikumoto, E.
AU - Ogawa, T.
AU - Karaki, M.
AU - Nishizaki, Kazunori
PY - 2000/11/30
Y1 - 2000/11/30
N2 - 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.
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.
KW - 3p-Syndrome
KW - Chromosome 3
KW - Hearing loss
KW - Malformation
KW - Terminal deletion
UR - http://www.scopus.com/inward/record.url?scp=0034736376&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034736376&partnerID=8YFLogxK
U2 - 10.1016/S0165-5876(00)00409-2
DO - 10.1016/S0165-5876(00)00409-2
M3 - Article
C2 - 11074119
AN - SCOPUS:0034736376
VL - 56
SP - 71
EP - 78
JO - International Journal of Pediatric Otorhinolaryngology
JF - International Journal of Pediatric Otorhinolaryngology
SN - 0165-5876
IS - 1
ER -