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PubMed · 4089505

Partial 9p monosomy--a case with hypothyroidism.

D Ioan·L Dumitriu·P Muşeţeanu·L Bereliuc·V Belengeanu·C Maximilian
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Abstract

A 4-yr-old boy with psycho-motor retardation, microcephaly, flat occipital, mongoloid slant, macrostomia with thickened lower lip and long filiform fingers is presented. Cytogenetically, the boy presents a "de novo" terminal 9p deletion. Complex endocrine exploration reveals the presence of hypothyroidism.

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Abnormalities, MultipleChild, PreschoolChromosome DeletionChromosomes, Human, 6-12 and XHumansHypothyroidismIntellectual DisabilityMaleSyndromeCase ReportsJournal Article

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D Ioan, L Dumitriu, P Muşeţeanu, L Bereliuc, V Belengeanu, C Maximilian. Partial 9p monosomy--a case with hypothyroidism.. https://pubmed.ncbi.nlm.nih.gov/4089505/

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