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Penta-x syndrome: a comparative study^*

P.H. Saldanha^I

^IUnidade de Aconselhamento Genético, Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11.461, 05499 São Paulo, SP, Brasil

ABSTRACT

As a continuation of a previous follow-up study of a penta-X patient (Rev. Bras. Genet. VII: 749-766, 1984), a comparative investigation of 25 X-pentasomic subjects thus far reported in the literature is presented. Etiology of the syndrome as caused by two successive non-disjunctions during oogenesis is considered to be the most likely hypothesis, also in accordance with its very rare incidence, probably lower than 10-6.
Early deaths, mainly caused by congenital heart defects and infectious episodes, are responsible for the low survival rate, which decreases the prevalence of affected subjects in the adult population. Thus, the syndrome is detected in infancy rather than at birth. Gestation time is normal but the syndrome is associated with low birth weight. Incidence occurs predominantly in first births, the sex-ratio seems to be shifted in favor of females, and parental age is not different from that of normal births.
Absence of karyotyping can impair differential diagnosis, since many clinical signs present in penta-X newborns simulate other hereditary syndromes, such as Turner, Larsen and Down. Syndrome delineation is biased by age-dependent signs, by anamneses oriented to particular purposes and by subjective evaluations of the clinical signs, among other factors. On the basis of their relative occurrence in 25 patients, defects detected in the penta-X syndrome were classified into three groups. First-order signs: very low TRC (mean = 70), psychomotor retardation (mean IQ = 45), ocular hypertelorism, slanted eyes, foot malformations, epicanthic folds, congenital heart defects, clinodactyly in the 5th finger, short neck, flat broad nose, tooth defects, and overlapping toes.

Keywords: penta-x syndrome.

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* An earlier version of this paper was presented at the 6th International Congress of Human Genetics, Jerusalem, Israel, September, 1981.