Genetic counseling is primarily aimed at patients who are at risk for inherited disorders, and experts recommend formal genetic counseling in most cases when genetic testing for an inherited condition is considered. The interpretation of the results of genetic tests and the understanding of risk factors can be very difficult and complex. Therefore, genetic counseling will assist individuals in ...

We use the patterns of homozygosity at multiple loci to distinguish between excess homozygosity caused by consanguineous mating and that due to undetected population subdivision (the Wahlund effect). Clarification of the underlying causes of excess homozygosity is of practical importance in explaining the occurrence of recessive genetic disorders and in forensic match probability calculations. ...

OBJECTIVES The aim of this paper is to describe the current knowledge about inherited diseases in UK children of Pakistani origin, who now number over 300,000, and to investigate disease associations with parental consanguinity. METHODS Published data on the overall prevalence of inherited diseases were reviewed in conjunction with published and unpublished information from the city of Bradfo...

BACKGROUND Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of the disorder and for genetic counseling. The aim of this study was to determine the frequency of carriers in a sample of the nonconsanguineous Brazili...

Thomas A. Field, M.Ed., NCC, LPC is a Faculty/Program Coordinator for the Masters of Arts in Counseling program at City University of Seattle and Ph.D. candidate in the counseling and supervision program at James Madison University. Correspondence can be addressed to Thomas A. Field, City University of Seattle, 521 Wall Street, Seattle, WA 98121, [email protected]. During the past decade, the fi...

OBJECTIVE Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., mother's exposure to toxicity, ethnicity) and genetic causes. Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder. METHODS Thirty-two non-syndromic ASDII patie...

OBJECTIVES To report on six independent and isolated cases demonstrating thumb aplasia as an essentially limb-specific phenotype. METHODS The subjects were ascertained during 2011-2013 from six different geographic regions of Pakistan, and underwent detailed clinical and phenotypic examination. RESULTS The affected arms of patients had complete absence of first digital rays, medial inclinat...

OBJECTIVES To describe prevalence of associated defects and clinical-genetic characteristics of patients with typical orofacial clefts seen at a reference genetic service. METHODS Descriptive study conducted between September of 2009 and July of 2014. Two experienced dysmorphologists personally collected and coded clinical data using a validated, standard multicenter protocol. Syndromic cases...

Genetic counseling is primarily aimed at patients who are at risk for inherited disorders, and experts recommend formal genetic counseling in most cases when genetic testing for an inherited condition is considered. The interpretation of the results of genetic tests and the understanding of risk factors can be very difficult and complex. Therefore, genetic counseling will assist individuals in ...

A 36-week gestation singleton male infant was born with hypoglycemia, thrombocytopenia, transaminitis, microcephaly, and a generalized eruption of bluish-red nonblanching macules and papules. Head computed tomography showed intracranial calcifications and enlarged ventricles. Skin biopsy was consistent with extramedullary hematopoiesis, with no evidence of neoplastic infiltrate. Family history ...