Prenatal findings in 1p36 deletion syndrome: New cases and a literature review

Abstract

Objective/Method 1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion. It is characterized by specific facial features, developmental delay, and organ defects. The primary objective of the present multicenter study was to survey all the cases of 1p36 deletion diagnosed prenatally by French cytogenetics laboratories using a chromosomal microarray. We then compared these new cases with the literature data. Results Ten new cases were reported. On average, the 1p36 deletion was diagnosed at 19 weeks of gestation. The size of the deletion ranged from 1.6 to 16 Mb. The 1p36 deletion was the only chromosomal abnormality in eight cases and was associated with a complex chromosome 1 rearrangement in the two remaining cases. The invasive diagnostic procedure had always been prompted by abnormal ultrasound findings: elevated nuchal translucency, structural brain abnormality, retrognathia, or a cardiac defect. Multiple anomalies were present in all cases. Discussion We conclude that 1p36 deletion is not associated with any specific prenatal signs. We suggest that a prenatal observation of ventriculomegaly, congenital heart defect, or facial dysmorphism should prompt the clinician to consider a diagnosis of 1p36 deletion syndrome.

Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital

“…The authors postulate that 1p36 deletion is difficult to diagnose given that it can be present without specific ultrasound signs. 30…”

“…A recent series of cases with 1p36 deletion suggests association to brain and facial abnormalities and reinforcing the indication of CMA study when these prenatal findings are detected. The authors postulate that 1p36 deletion is difficult to diagnose given that it can be present without specific ultrasound signs 30 …”

Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center

“…It is associated with language defects, behavioral symptoms, intellectual disabilities, epilepsy, and motor delays and usually a contributing factor in TOP decisions. 27–31 The 16p13.11 microdeletion syndrome and 16p13.11 microduplication syndrome related to neurosusceptibility sites were detected in two fetuses with mild BVM. They had normal development during short-term follow-up and long-time follow-up was required for prognosis assessment.…”

Prenatal diagnosis of pure 1p36 terminal deletion by chromosome microarry analysis — clinical report of 3 new cases and review of the literature

“…Chromosome 1p36 deletion syndrome (OMIM 607872) is the most common subtelomeric terminal deletion syndrome, with an estimated incidence of 1/5000 births [1] . The previous study showed that the deletion size and breakpoints varies widely from 1.5 Mb ->10 Mb, about 40% of all breakpoints occur 3.0-5.0 Mb from the telomere, and 50% of individuals with 1p36 deletion syndrome have a terminal deletion [2] . The major clinical features of 1p36 deletion syndrome patients characterized by a variety of generalized hypotonia, seizure, prenatal or postnatal growth restriction, severe developmental delays, facial features and CHDs [3,4 , the patients may also show skeletal abnormalities, fetal akinesia, gastrointestinal malformations, cutis laxa, and biliary atresia [5][6][7] .…”