Two Siblings with Partial Trisomy 15 and Monosomy 21 Associated with Central Nervous System Anomalies.

Ishida, Akira; Sawaishi, Yukio; Goto, Atsuko; Arai, Hirokazu; Nakajima, Wako; Onozaki, Michihiko; Takada, Goro

doi:10.1620/tjem.171.277

Cited by 2 publications

(2 citation statements)

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“…No patient with FM21 and holoprosencephaly has been recorded until today. However, four previous patients were reported with lack of material of chromosome 21 and holoprosencephaly: a child with a minute deletion of 21q [Estabrooks et al, 1990], a partial monosomy 21 due to a translocation 15; 21 [Ishida et al, 1993] and two cases of ring 21 chromosome with a breakpoint on 21q [Aronson et al, 1987; Hoovers and Jansweijer, 1987]. The finding of holoprosencephaly in our patient further suggests that haploinsufficiency of a gene or genes in the region 21q may have some relationship in the development of such malformation.…”

Section: Discussionmentioning

confidence: 99%

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

Mori

Lapunzina

Delicado

et al. 2003

American J of Med Genetics Pt A

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We report on a patient with a full monosomy 21 (FM21) 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 21q 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 FM21.

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Section: Discussionmentioning

confidence: 99%

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

Mori

Lapunzina

Delicado

et al. 2003

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Monosomy 21 is a rare chromosomal disorder. The fetus may be delivered alive with the abnormalities mainly involving the central nervous system and other dysmorphic features (Garzicic et al, 1988;Viljoen et al, 1992;Ishida et al, 1993). However, no case has been diagnosed prenatally before, and no case has been described with fetal megacystis.…”

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confidence: 99%