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Wolf Hischhorn Chromosome Abnormality

Wolf Hischhorn Chromosome Abnormality. by Andrew Waters Tim Lyle Heather Edmondson David Grkovic. Wolf Hirschhorn. DEFINITION- A chromosomal disorder characterized by 4p monosomy resulting in certain facial dysmorphic features and neurological manifestations. Epidemiology.

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Wolf Hischhorn Chromosome Abnormality

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  1. Wolf Hischhorn Chromosome Abnormality by Andrew Waters Tim Lyle Heather Edmondson David Grkovic

  2. Wolf Hirschhorn • DEFINITION-A chromosomal disorder characterized by 4p monosomy resulting in certain facial dysmorphic features and neurological manifestations.

  3. Epidemiology • incidence: rare (120 cases reported worldwide) • age of onset: newborn (dysmorphic features) • RISK FACTORS • sporadic in a majority of cases • 13% of cases due to parental chromosomal aberrations, i.e., translocation • F > M

  4. Genetic Defect • deletion of some of the genetic material of the short arm of chromosome 4 deletion of band 4p16 is required for full phenotypic expression also referred to as Wolf-Hirschhorn Syndrome

  5. Facial Dysmorphic Features • Head and neck: Cranial asymmetry, microcephaly, high forehead, occasional midline scalp defect, micrognathia, facial angiomas, long face, midfacial hypoplasia • Ears: Deeply seated malformed and poorly differentiated ears with lobeless pinnae, narrow external canals, and preauricular dimples or skin tags. • Eyes: Hypertelorism, highly arched eyebrows, downward or upward slanting palpebral fissures, strabismus, coloboma of the iris, corectopia, and blepharoptosis. • Nose: Beaked nose with wide bridge, prominent glabella, short philtrum, and epicanthal folds. • Mouth and oral structures: Carp-shaped mouth with downturned corners, cleft lip and/or palate, thick lower lip, highly-arched palate, and hypodontia.

  6. Neurological Manifestations • profound mental retardation • severe psychomotor retardation • weak cry in infancy • seizures

  7. Other Manifestations • hypospadias • hypoplastic Mullerian derivatives • low birthweight (mean = 2,015 gm) • postnatal growth retardation • underdeveloped dermal ridges and low ridge count

  8. Pictures The website says Children “with Wolf-Hirschhorn syndrome (46,XY,del[4p]). Note the wide-spaced eyes and repaired cleft lip." (Wolf-Hirschhorn syndrome. 14 May 2001. http://medgen.genetics.utah.edu/photographs/pages/wolfhirschhorn.htm)

  9. Karyotype In this karyotype a small part of the p-arm of chromosome 4 has been lost. This is an example of a deletion. (Wolf-Hirschhorn syndrome. 14 May 2001. http://medgen.genetics.utah.edu/photographs/pages/wolfhirschhorn.htm)

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