1993
DOI: 10.1620/tjem.171.277
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Two Siblings with Partial Trisomy 15 and Monosomy 21 Associated with Central Nervous System Anomalies.

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Cited by 2 publications
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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%
“…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%
“…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.…”
mentioning
confidence: 99%