Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome

  title={Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome},
  author={Andreas Dufke and J{\"o}rg Seidel and Martin Sch{\"o}ning and Marion D{\"o}bler-Neumann and Christina Kelbova and Thomas Liehr and Volkmar Beensen and Claudia Backsch and Ute Klein-Vogler and Herbert Enders},
  journal={Cytogenetic and Genome Research},
  pages={81 - 84}
Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS critical region. In this paper we evaluate three WHS patients showing a microdeletion of 4p and remarkable development with respect to the clinical spectrum of WHS. 

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Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions.

It is proposed that the clinical differences observed between these two syndromes are likely the result of allelic variation in the remaining homologue.

Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.

The identification of a 4p microdeletion in 2 new patients, who were previously diagnosed with PRDS, as well as the sibs in Pitt et al.

From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?

Apparently normal chromosomes without a molecular 4p16.3 deletion were found in a patient with a Wolf-Hirschhorn syndrome (WHS) phenotype, suggesting that a diagnosis of Pitt-Rogers-Danks syndrome (PRDS) may be more likely in this patient.

[Wolf-Hirschhorn syndrome].

Cytogenetics examination showed the chromosomal aberration typical for Wolf-Hirschhorn's syndrome or syndrome with partial deletion of short arm of chromosome number 4.

The Wolf‐Hirschhorn syndrome

Analysis of the morphological data on the Wolf‐Hirschhorn syndrome reveals that association of typical external features and abnormalities of the brain, eyes, eyes and kidneys with diaphragmatic hernia allows the establishment of a diagnosis of the syndrome without cytogenetic investigation.

Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype.

It is concluded that the Pitt-Rogers-Danks phenotype is associated with 4p- in two patients and that the syndromic status of thePitt- Rogers- Danks status should be reassessed.

Pitt-Rogers-Danks syndrome: further delineation.

The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes

Natural History of Wolf-Hirschhorn Syndrome: Experience With 15 Cases

The combined cases of the three centers with the 4p- syndrome represent considerable experience, providing new information on several aspects of this important deletion syndrome.

A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation.

  • D. Donnai
  • Medicine
    American journal of medical genetics
  • 1986
A further case of a syndrome of pre- and postnatal growth retardation, characteristic face, and unusual palmar creases is described, apparently sporadic occurrence in this family does not rule out autosomal recessive inheritance of this syndrome.

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

The molecular mapping of the translocation breakpoint is described and it is suggested that a single dose leads to growth failure and a triple dose to physical overgrowth of the fibroblast growth factor receptor gene 3 (FGFR3), which is located at 4p16.3.