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[Familial Pitt-Rogers-Danks: two new cases]
J C Cabrera López1, M Marti Herrero, M Fernández Burriel
1Unidad de Neuropeditría, Hospital Materno-Infantil de Canarias, Las Palmas de Gran Canaria, España. bandera1@retemail.es
Revista De Neurologia
|December 1, 2001
Summary
Pitt Rogers Danks syndrome, a variant of Wolf Hirschhorn syndrome, involves growth and mental retardation. Two cases in one family resulted from a 4:8 translocation, highlighting genetic mechanisms.
Area of Science:
- Genetics
- Clinical Medicine
- Pediatrics
Background:
- Pitt Rogers Danks syndrome shares characteristics with Wolf Hirschhorn syndrome, including growth retardation, mental deficits, and microcephaly.
- Both syndromes are associated with a deletion in the 4p16.3 chromosomal region.
- Genetic analysis is crucial for differentiating and understanding these related conditions.
Observation:
- Two cases of Pitt Rogers Danks syndrome occurred within the same family.
- The syndrome presentation in these cases was linked to maternal mal segregation of a 4:8 balanced translocation.
- Clinical features included prenatal and postnatal growth retardation, mental retardation, microcephaly, and convulsions.
Findings:
- The study confirms Pitt Rogers Danks syndrome as a clinical variant of Wolf Hirschhorn syndrome.
- Identified a specific chromosomal abnormality (4:8 balanced translocation) as the cause in the reported family.
- Detailed clinical characteristics and diagnostic investigations were performed.
Implications:
- Understanding the genetic basis of Pitt Rogers Danks syndrome aids in genetic counseling and family planning.
- Highlights the importance of investigating chromosomal translocations in cases with overlapping features of known genetic syndromes.
- Further research into the 4p16.3 region and its role in development is warranted.