Pre‐ and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)

Abstract

We report on a fetus and a newborn, both with partial trisomy 7q21-->qter due to different familial translocations, t(7;21)(q21.2;p12) and t(4;7)(q35;q21.2). Postmortem examination of the 19-week-old female fetus disclosed dysmorphic features, cleft palate, anomalies of the great vessels, intestinal malrotation and uterus bicornis. The newborn girl revealed a pattern of minor anomalies, cleft palate, cerebellar hypoplasia, and anomalies of pancreas, gall bladder and appendix. The clinical findings in three other reported fetuses with partial trisomy 7q described so far are reviewed. A duplication 7q21-->qter, as found in the propositi, has only been described in 11 patients who all had a concurrent partial monosomy. Patient 1 is particularly interesting since she is, to our knowledge, the first reported case with pure trisomy 7q21/22-->qter. We reviewed the phenotype of the previously described patients, compared it with the propositae, and summarized the clinical features of pure trisomy 7q21/22-->qter.

Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

“…There are several chromosome abnormalities that may be associated with CH (Figure ) . Our results further demonstrate that the deletion of 5p15.33, 6q terminal deletion syndrome, and Xq28 duplication syndrome may be related with CH.…”

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

“…High resolution chromosomal analysis of the proband showed 46,XY,dup 7(q21.2-q32). Twelve patients with duplication/trisomy of 7q have been reported [1][2][3][4][5][6][7][8]. A summary of clinical findings of patients with partial duplication of 7q is given in Table 1 Our patient confirms that partial trisomy/duplication of 7q is associated with macrocephaly, frontal bossing, failure to thrive, psychomotor delay and malformed ears.…”

“…Partial trisomy/duplication of chromosome 7q is associated with a characteristic syndrome of frontal bossing, retrognathia, small jaw, low-set ears, dysplastic ears, deep-set and prominent eyes, strabismus, down-curved upper lip, small mouth, short hands, stiffness of fingers and other joints, joint laxity, scoliosis, reduced muscle tone, hydrocephalus, growth retardation, strabismus, coloboma of iris, drooping upper eyelid, widely-spaced eyes, long eyelashes and short space between eyelids [1][2][3][4][5][6][7][8].…”

Prenatal diagnosis of del(9)(p24): a sex reverse case

“…The 7q duplication can result in a distinct phenotype visible even if the extent of duplication is small (Morava et al, 2003): high forehead, epicanthic folds, small nose, cleft palate, micrognathia, low set and dysplastic ears are the main signs, but cerebellar hypoplasia, hydrocephalus ex vacuo and incomplete intestinal rotation have also been reported (Courtens et al, 2001;Rodriguez et al, 2002).…”