Cytogenetic and molecular characterization of a three‐generation family with chromosome 5p terminal deletion

  title={Cytogenetic and molecular characterization of a three‐generation family with chromosome 5p terminal deletion},
  author={J-S Fang and K-F Lee and C-T Huang and Ciao-Ling Syu and K. J. Yang and L-H Wang and Dan Liao and C-H Chen},
  journal={Clinical Genetics},
Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri‐du‐chat syndrome (cat cry syndrome), which is characterized by a cat‐like cry in infancy, facial dysmorphism, microcephaly, and mental retardation. There is a high degree of variation in clinical presentations of patients with cri‐du‐chat syndrome, which is usually associated with different sizes and locations of deletions in chromosome 5p. Most patients with a 5p deletion have de novo… 

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

The observed intra‐familial phenotypic heterogeneity suggests that additional modifying elements including genetic and environmental factors may have an impact on the clinical manifestations observed in 5p deletion carriers, and in time, further high resolution studies of5p deletion breakpoints will continue to aid in defining genotype–phenotype correlations.

A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis

It is postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter.

Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p

The utility of genomic arrays are demonstrated as a diagnostic tool to better characterize atypical deletions in known syndromes such as 5p– syndrome, which will allow a better understanding of the genotype-phenotype correlations.

Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?

A family is presented in which a transmitted interstitial deletion of 5p13.3 to 5p14.3 co‐segregated with learning and/or behavioral difficulties in six family members, and the possibility of position effects in which CDH6, and other cadherin genes, become penetrant when adjacent genes, or modifiers of gene expression, are also deleted is considered.

Molecular Genetics of Mental Retardation

Diagnostic workup of patients with MR should include all or some of the following: careful dysmorphological and neurological examination, karyotyping, fragile X analysis, investigations aimed at detection of microdeletions/microduplications and resequencing of mental retardation-causing genes.

Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

These cases highlight the fundamental role of the clinical suspicion in guiding the approach for the etiological diagnosis of patients and suggest molecular cytogenetics techniques, such as aCGH, should be considered when the clinician suspects the presence of a chromosomal imbalance in spite of a normal karyotype.

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

The presence of several individuals with 5p monosomy and 5p trisomy in the same family is valuable for a better delineation of both syndromes.

External quality assessment of prenatal diagnosis of a rare and subtle chromosomal structural abnormality.

Conventional cytogenetic analysis couldn't always detect subtle chromosomal structure abnormalities correctly during prenatal diagnosis, and an excellent external quality assessment (EQA) scheme is currently imperative in China.

Cryptic subtelomeric rearrangements and studies of telomere length

An estimated five percent of individuals with unexplained mental retardation (MR) have chromosomally unbalanced subtelomere regions and around half of these individuals inherited the imbalance from a parent with a balanced rearrangement, according to this study.



Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

DNA clones mapping in the chromosomal region associated with the cat-like cry feature will allow for the distinction between 5p deletions that will result in the severe delay observed in most cri-du-chat syndrome patients and those deleting that result inThe isolated cat- like cry feature, which is associated with a better prognosis.

Variability in a family with an insertion involving 5p.

This family demonstrates the importance of performing phenotype-genotype correlation studies based on the presence rather than the absence of abnormalities, and was informative for further refining the phenotypic map for the cri-du-chat syndrome.

FISH analysis of terminal deletions in patients diagnosed with cri‐du‐chat syndrome

The results demonstrate the need for supplementing standard cytogenetics with FISH analysis when an abnormal karyotype is detected and affect the clinical prognosis for some patients with cri‐du‐chat syndrome.

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.

The usefulness of the molecular cytogenetic approach for characterizing complex chromosome rearrangements in patients with an isolated catlike cry can avoid an incorrect diagnosis of the cri-du-chat syndrome, which is associated with a more severe prognosis.

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

Genotype-phenotype correlation in 62 patients with terminal deletions highlighted a progressive severity of clinical manifestation and psychomotor retardation related to the size of the deletion, lending support to the hypothesis of a separate region in p15.3 for the speech delay.

Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

Using patients with atypical CDC features or asymptomatic deletions, several phenotypes associated with deletions of 5p are mapped, including speech delay, catlike cry, newborn facial dysmorphism, and adult facial dys Morphism.

Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier

A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high‐pitched mewing cry characteristic of cri du chat syndrome, and Chromosome studies revealed that the mother carried an apparently balanced pericentric inversion of one chromosome no. 5.

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).

The combination of FISH, CGH, and cytogenetics has confirmed that the characteristic cry of the cri du chat syndrome is due to the deletion of the most distal part of the classic del 5p region and defined the duplication of 5q34 --> qter as a distinct clinical phenotype.

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.

The results demonstrate the need for careful characterization of a 5p deletion in prenatal cases before clinical predictions are made and identify several chromosomal regions that were involved in specific clinical features.

A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis

It is confirmed the importance of differentiating between 5p deletions that coincide with the typical cri du chat phenotype which includes severe to profound learning disability and deleting the distal critical region that coincides with a milder degree of cognitive impairment and a much improved prognosis.