Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion

@article{Hirschhorn2004DeletionOS,
  title={Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion},
  author={Kurt Hirschhorn and Herbert L. Cooper and I. Lester Firschein},
  journal={Humangenetik},
  year={2004},
  volume={1},
  pages={479-482}
}
We have described a case of a child with multiple congenital anomalies, including defects of midline fusion and abnormal dermatoglyphies. [] Key Result Chromosome analysis revealed deletion of part of the short arm of a chromosome in group 4--5. Although autoradiography studies were not done in this ease, it clinically resembles one in which the deleted chromosome belongs to the late replicating pair of group 4--5. This ease, therefore, not only differs from the cat cry syndrome in its clinical…

Partial deletion of 4p16 band in a ring chromosome and wolf syndrome

TLDR
A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described and the characteristics of the child's karyotype and the relationship with the structure of the chromosome, especially the location of the deletion that produces the syndrome are compared.

PHENOTYPIC VARIATIONS IN WOLF

TLDR
The assessment of several elements (facial dysmorphism, mental retardation, additional congenital anomalies) provided classifi- cation into minor, mild or severe forms ofWolf-Hirschhorn syndrome.

Phenotypic Variations in Wolfhirschhorn Syndrome

TLDR
The assessment of several elements (facial dysmorphism, mental retardation, additional congenital anomalies) provided classification into minor, mild or severe forms ofWolf-Hirschhorn syndrome.

Phenotypic Variations in Wolf-Hirschhorn Syndrome

TLDR
The assessment of several elements (facial dysmorphism, mental retardation, additional congenital anomalies) provided classification into minor, mild or severe forms ofWolf-Hirschhorn syndrome.

The partial 4q monosomy

TLDR
The features expressed by the patient and 11 previously published cases, especially the peculiar dysmorphic face with long flat nasal saddle, hypertelorism, upturned nares, micrognathia, clinodactyly, joint contractures and absence of the flexion crease of the 5th finger, confirm the existence of a recognisable clinical syndrome associated with this partial autosomal monosomy.

Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]

TLDR
Cytogenetic studies in these patients suggest that the critical deletion involved in Wolf-Hirschhorn syndrome is within 4p 16, although the origin of the translocated chromatin could not be identified.

Submicroscopic Duplication of the Wolf-Hirschhorn Critical Region with a 4p Terminal Deletion

TLDR
It is proposed that overexpression of candidate genes in WHS (WHSC1, WHSC2 and LETM1) due to a duplication causes a clinical entity different to both the WHS and 4p trisomy syndrome.

Clinical, Cytogenetic and Molecular Investigation in a Fetus with Wolf-Hirschhorn Syndrome with Paternally Derived 4p Deletion

TLDR
The possibility of recognising the particular phenotype of WHS in utero by prenatal ultrasound is suggested and the importance of karyotyping fetuses with severe IUGR, especially when the amount of amniotic fluid is normal, is emphasised.
...

References

SHOWING 1-3 OF 3 REFERENCES

CHROMOSOMAL AUTORADIOGRAPHY IN THE CRI DU CHAT SYNDROME.

TLDR
The pattern of DNA synthesis in the chromosomes of Group 4–5 has been analysed in cells from individuals with the cri du chat syndrome, and a No. 5 chromosome is found to be abnormal.

G~oucI~Y: Chromosomal autoradiography in the cri-du-chat-syndrome

  • Cytogenetics 3,
  • 1964

COOPE~: Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion

  • Human Chromosome Newsl. 4,
  • 1961