A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings.

[monosomy 21]

We report on a patient with a full monosomy 21 (FM 21 ) prenatally diagnosed in cord fetal blood , and subsequently confirmed in other tissues . Subtle chromosomal translocations of chromosome 21 , were ruled-out by FISH using both painting and 21 q telomeric probes . Microsatellites analysis demonstrated the paternal origin of the single chromosome . The propositus showed at 32 weeks of gestation a severe intrauterine growth retardation and microcephaly . He was born with multiple congenital malformations , hypotonia , microcephaly , bilateral microphthalmia (more severe on the left ), facial dysmorphism , agenesis of the external auditory meatus , redundant skin in the neck , narrow chest , flat scrotum , cryptorchydism , hypospadias , micropene , camptodactyly , nail hypoplasia , and abnormal palmar and plantar creases . The patient died in the first day of life . At necropsy , micrencephaly , semilobar holoprosencephaly , polimicrogyria , ocular abnormalities , skeletal anomalies , congenital heart disease , and agenesis of right kidney were also observed . To our best knowledge , this case is one of the most completely patient studied with FM 21 .

Diseases
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Diseases presenting "fetal blood" symptom

monosomy 21

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