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1.
A prenatal counseling conundrum: mosaic trisomy 16. A case study presenting cognitive functioning and adaptive behavior.
Simensen, R J; Colby, R S; Corning, K J.
Genet Couns ; 14(3): 331-6, 2003.
Article in English | MEDLINE | ID: mdl-14577678

ABSTRACT

We report developmental data on a patient prenatally diagnosed with mosaic trisomy 16. At age six years her intellectual functioning, academic achievement, and adaptive behavior are normal. The myriad of findings among cases prenatally diagnosed with mosaic trisomy 16 are discussed. The diagnosis presents a dilemma for genetic counselors and clinicians.


Subject(s)
Chromosomes, Human, Pair 16/genetics , Genetic Counseling , Prenatal Diagnosis , Trisomy/genetics , Child, Preschool , Cognition/physiology , Female , Humans , Pregnancy
2.
P63 mutations are not a major cause of non-syndromic split hand/foot malformation.
de Mollerat, X J; Everman, D B; Morgan, C T; Clarkson, K B; Rogers, R C; Colby, R S; Aylsworth, A S; Graham, J M; Stevenson, R E; Schwartz, C E.
J Med Genet ; 40(1): 55-61, 2003 Jan.
Article in English | MEDLINE | ID: mdl-12525544

Subject(s)
Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Membrane Proteins , Mutation/genetics , Phosphoproteins/genetics , Trans-Activators/genetics , DNA Mutational Analysis/methods , DNA-Binding Proteins , Female , Genes, Tumor Suppressor , Humans , Infant , Male , Pedigree , Syndrome , Transcription Factors , Tumor Suppressor Proteins
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