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Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father.
Genet Couns. 2001; 12(3):251-4.GC

Abstract

In this report we present two halfsisters with typical cleft hand/cleft foot syndrome. Their father is normal, and family history is negative. This observation provides further evidence for germinal mosaicism in this autosomal dominant condition, with variable expression and penetrance.

Authors+Show Affiliations

Department of Orthopedic Surgery, University of Leuven, Belgium.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11693788

Citation

De Smet, L, et al. "Further Evidence for Germinal Mosaicism in Cleft Hand/cleft Foot Syndrome. Two Affected Halfsisters and Normal Father." Genetic Counseling (Geneva, Switzerland), vol. 12, no. 3, 2001, pp. 251-4.
De Smet L, Devriendt K, Fryns JP. Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father. Genet Couns. 2001;12(3):251-4.
De Smet, L., Devriendt, K., & Fryns, J. P. (2001). Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father. Genetic Counseling (Geneva, Switzerland), 12(3), 251-4.
De Smet L, Devriendt K, Fryns JP. Further Evidence for Germinal Mosaicism in Cleft Hand/cleft Foot Syndrome. Two Affected Halfsisters and Normal Father. Genet Couns. 2001;12(3):251-4. PubMed PMID: 11693788.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father. AU - De Smet,L, AU - Devriendt,K, AU - Fryns,J P, PY - 2001/11/6/pubmed PY - 2002/2/14/medline PY - 2001/11/6/entrez SP - 251 EP - 4 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 12 IS - 3 N2 - In this report we present two halfsisters with typical cleft hand/cleft foot syndrome. Their father is normal, and family history is negative. This observation provides further evidence for germinal mosaicism in this autosomal dominant condition, with variable expression and penetrance. SN - 1015-8146 UR - https://wwww.unboundmedicine.com/medline/citation/11693788/Further_evidence_for_germinal_mosaicism_in_cleft_hand/cleft_foot_syndrome__Two_affected_halfsisters_and_normal_father_ DB - PRIME DP - Unbound Medicine ER -