Abstract
We report on an 18-month-old girl with multiple congenital anomalies (prominence of the metopic suture, fine hair, club foot, absence of the 12th rib, brachydactyly) and severe mental retardation. The funduscopic examination showed diffuse retinal hypopigmentation. Brain magnetic resonance image (MRI) showed signs of diffuse hypomyelination. On cytogenetic and molecular evidence, the karyotype was 46,X,dirdup(X) (pter→q24::q21.32→qter). The duplication of the PLP gene, involved in Pelizaeus-Merzbacher disease, was confirmed by fluorescent in situ hybridization (FISH). Both cytogenetic and molecular studies on the X chromosome inactivation status indicated a random pattern in lymphocytes and fibroblasts. This patient appears to be the first case of a female bearing a large duplication of Xq with a random X inactivation. The phenotype of this patient is compared to that of previously reported cases with Xq duplication.
| Original language | English |
|---|---|
| Pages (from-to) | 329-334 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics |
| Volume | 72 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Oct 31 1997 |
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Keywords
- Hypomyelination
- Multiple congenital anomalies
- Pelizaeus-Merzbacher disease
- PLP gene
- X inactivation
- Xq duplication
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation. / Carrozzo, Romeo; Arrigo, Giulia; Rossi, Elena; Bardoni, Barbara; Cammarata, Marina; Gandullia, Paolo; Gatti, Rosanna; Zuffardi, Orsetta.
In: American Journal of Medical Genetics, Vol. 72, No. 3, 31.10.1997, p. 329-334.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation
AU - Carrozzo, Romeo
AU - Arrigo, Giulia
AU - Rossi, Elena
AU - Bardoni, Barbara
AU - Cammarata, Marina
AU - Gandullia, Paolo
AU - Gatti, Rosanna
AU - Zuffardi, Orsetta
PY - 1997/10/31
Y1 - 1997/10/31
N2 - We report on an 18-month-old girl with multiple congenital anomalies (prominence of the metopic suture, fine hair, club foot, absence of the 12th rib, brachydactyly) and severe mental retardation. The funduscopic examination showed diffuse retinal hypopigmentation. Brain magnetic resonance image (MRI) showed signs of diffuse hypomyelination. On cytogenetic and molecular evidence, the karyotype was 46,X,dirdup(X) (pter→q24::q21.32→qter). The duplication of the PLP gene, involved in Pelizaeus-Merzbacher disease, was confirmed by fluorescent in situ hybridization (FISH). Both cytogenetic and molecular studies on the X chromosome inactivation status indicated a random pattern in lymphocytes and fibroblasts. This patient appears to be the first case of a female bearing a large duplication of Xq with a random X inactivation. The phenotype of this patient is compared to that of previously reported cases with Xq duplication.
AB - We report on an 18-month-old girl with multiple congenital anomalies (prominence of the metopic suture, fine hair, club foot, absence of the 12th rib, brachydactyly) and severe mental retardation. The funduscopic examination showed diffuse retinal hypopigmentation. Brain magnetic resonance image (MRI) showed signs of diffuse hypomyelination. On cytogenetic and molecular evidence, the karyotype was 46,X,dirdup(X) (pter→q24::q21.32→qter). The duplication of the PLP gene, involved in Pelizaeus-Merzbacher disease, was confirmed by fluorescent in situ hybridization (FISH). Both cytogenetic and molecular studies on the X chromosome inactivation status indicated a random pattern in lymphocytes and fibroblasts. This patient appears to be the first case of a female bearing a large duplication of Xq with a random X inactivation. The phenotype of this patient is compared to that of previously reported cases with Xq duplication.
KW - Hypomyelination
KW - Multiple congenital anomalies
KW - Pelizaeus-Merzbacher disease
KW - PLP gene
KW - X inactivation
KW - Xq duplication
UR - http://www.scopus.com/inward/record.url?scp=0030756572&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030756572&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19971031)72:3<329::AID-AJMG15>3.0.CO;2-V
DO - 10.1002/(SICI)1096-8628(19971031)72:3<329::AID-AJMG15>3.0.CO;2-V
M3 - Article
C2 - 9332664
AN - SCOPUS:0030756572
VL - 72
SP - 329
EP - 334
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -