Abstract
We report on a 19-month-old girl who presented with the phenotype of cardio-facio-cutaneous (CFC) syndrome including characteristic minor facial anomalies, cardiac defect, ectodermal anomalies, and developmental delay. Cytogenetic analysis showed the presence of an interstitial deletion of one chromosome 12, del(12)(q21.2q22), confirmed by fluorescence in situ hybridization with chromosome band specific probes. Controversy exists as to whether CFC and Noonan syndrome (NS) are distinct disorders, a contiguous gene syndrome, or allelic variants. The identification of the del(12) in this patient, in a region distinct from the putative NS locus, supports the view that CFC is a genetically distinct condition from NS. In addition, this implicates the region 12q21.2→q22 as a candidate region for the gene(s) causing CFC syndrome. (C) 2000 Wiley-Liss, Inc.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 219-222 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 93 |
| Issue number | 3 |
| DOIs | |
| State | Published - Jun 12 2000 |
| Externally published | Yes |
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Keywords
- Cardio-facio-cutaneous syndrome
- Chromosome 12
- Deletion
- Noonan syndrome
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q : Identification of a candidate region for CFC syndrome. / Rauen, Katherine A; Cotter, Philip D.; Bitts, Sheila M.; Cox, Victoria A.; Golabi, Mahin.
In: American Journal of Medical Genetics, Vol. 93, No. 3, 12.06.2000, p. 219-222.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q
T2 - Identification of a candidate region for CFC syndrome
AU - Rauen, Katherine A
AU - Cotter, Philip D.
AU - Bitts, Sheila M.
AU - Cox, Victoria A.
AU - Golabi, Mahin
PY - 2000/6/12
Y1 - 2000/6/12
N2 - We report on a 19-month-old girl who presented with the phenotype of cardio-facio-cutaneous (CFC) syndrome including characteristic minor facial anomalies, cardiac defect, ectodermal anomalies, and developmental delay. Cytogenetic analysis showed the presence of an interstitial deletion of one chromosome 12, del(12)(q21.2q22), confirmed by fluorescence in situ hybridization with chromosome band specific probes. Controversy exists as to whether CFC and Noonan syndrome (NS) are distinct disorders, a contiguous gene syndrome, or allelic variants. The identification of the del(12) in this patient, in a region distinct from the putative NS locus, supports the view that CFC is a genetically distinct condition from NS. In addition, this implicates the region 12q21.2→q22 as a candidate region for the gene(s) causing CFC syndrome. (C) 2000 Wiley-Liss, Inc.
AB - We report on a 19-month-old girl who presented with the phenotype of cardio-facio-cutaneous (CFC) syndrome including characteristic minor facial anomalies, cardiac defect, ectodermal anomalies, and developmental delay. Cytogenetic analysis showed the presence of an interstitial deletion of one chromosome 12, del(12)(q21.2q22), confirmed by fluorescence in situ hybridization with chromosome band specific probes. Controversy exists as to whether CFC and Noonan syndrome (NS) are distinct disorders, a contiguous gene syndrome, or allelic variants. The identification of the del(12) in this patient, in a region distinct from the putative NS locus, supports the view that CFC is a genetically distinct condition from NS. In addition, this implicates the region 12q21.2→q22 as a candidate region for the gene(s) causing CFC syndrome. (C) 2000 Wiley-Liss, Inc.
KW - Cardio-facio-cutaneous syndrome
KW - Chromosome 12
KW - Deletion
KW - Noonan syndrome
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UR - http://www.scopus.com/inward/citedby.url?scp=0034640676&partnerID=8YFLogxK
U2 - 10.1002/1096-8628(20000731)93:3<219::AID-AJMG12>3.0.CO;2-5
DO - 10.1002/1096-8628(20000731)93:3<219::AID-AJMG12>3.0.CO;2-5
M3 - Article
C2 - 10925386
AN - SCOPUS:0034640676
VL - 93
SP - 219
EP - 222
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 3
ER -