What question did this study set out to answer?

To determine the prevalence, inheritance patterns, and clinical consequences of recurrent submicroscopic microdeletions and microduplications at chromosome 1q21.1.

September 10, 2008New England Journal of MedicineOpen Access

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

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Authors

HMHeather C. MeffordSt. Jude Children's Research Hospital ASAndrew J. SharpChild Health and Development Institute CBCarl BakerUniversity of Washington

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Implication

Case-control study reveals recurrent chromosome 1q21.1 rearrangements in pediatric developmental disorders, highlighting variable clinical manifestations across genotypes.

Key Points

To determine the prevalence, inheritance patterns, and clinical consequences of recurrent submicroscopic microdeletions and microduplications at chromosome 1q21.1.
Screened 5,218 pediatric patients with unexplained mental retardation, autism, or congenital anomalies alongside 4,737 unaffected control subjects for 1q21.1 structural variants.
Assessed parental inheritance in deletion-positive cases and evaluated an independent replication cohort of 788 patients with developmental delay and congenital anomalies.
Identified a recurrent 1.35-Mb deletion at 1q21.1 in 25 of 5,218 patients compared to 0 of 4,737 controls (P=1.1x10^-7), presenting with diverse features including microcephaly, cardiac anomalies, mental retardation, and cataracts.
Observed reciprocal 1q21.1 microduplications significantly enriched in 9 patients with mental retardation or autism spectrum disorders (P=0.02).
Confirmed the findings in an independent validation cohort of 788 affected patients, identifying 3 deletions and 3 duplications.

Cite This Study

Mefford et al. (2008) studied this question.

synapsesocial.com/papers/6a01c3c61487eb4b96caef8a https://doi.org/10.1056/nejmoa0805384

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Implication

Case-control study reveals recurrent chromosome 1q21.1 rearrangements in pediatric developmental disorders, highlighting variable clinical manifestations across genotypes.

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

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Implication

Key Points

Cite This Study

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Discussion

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Implication

Key Points

Cite This Study

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