1998
DOI: 10.1590/s1415-47571998000100024
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Abstract: The authors report an additional case of partial monosomy of the long arm of chromosome 6 [46,XY,del (6)(q22 ® qter)]. Our patient has a large segment beyond 6q25 deleted, then severe psychomotor retardation is expected to occur.
Os autores descrevem um novo caso de monossomia parcial do braço longo do cromossomo 6 [46,XY,del (6)(q22 ® qter)]. A ocorrência de retardo psicomotor severo é esperada em função do paciente apresentar um dos m…
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Cited by 3 publications
(1 citation statement)
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“…Chromosome 6q deletion is associated with dysmorphic features and multiple anomalies, which were seen in the index case also. The more frequently observed clinical features in 6q deletion are congenital heart defects,[ 3 ] which were also seen in our case. The child had VSD, ASD, and PDA with moderately severe pulmonary hypertension.…”
Section: Discussionsupporting
confidence: 79%
“…Chromosome 6q deletion is associated with dysmorphic features and multiple anomalies, which were seen in the index case also. The more frequently observed clinical features in 6q deletion are congenital heart defects,[ 3 ] which were also seen in our case. The child had VSD, ASD, and PDA with moderately severe pulmonary hypertension.…”
Section: Discussionsupporting
confidence: 79%