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Cytogenetic Technology Program

Congenital Syndromes

Cytogenetic Technology Program
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Cytogenetic Technology Overview

Chromosomes

Cancer

Congenital Syndromes

Treatment Regimen

Response to Therapy

Miscarriages

New Therapies

FISH Basics

Gene Level

Microdeletions

Interphase Nuclei

Types of FISH Probes

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   Klinefelter syndrome

XXY sex chromosome complement found in Klinefelter syndrome.  Normal males have one X and one Y chromosome.  People with Klinefelter Syndrome are males and tend be tall and thin.  Some may gynecomastia (enlarged breast tissue) and lack body hair. 

                                       VCFS

A very small deletion of chromosome 22 is associated with Velocardiofacial Syndrome (VCFS) and other similar syndromes.  People with VCFS have many congenital abnormalities that may include heart defects, an underdeveloped thymus, cleft lip/palate, abnormal facial features and hypocalcemia.  These people also usually have mental retardation and developmental delay. 

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