Am J Dis Child. 1979 Apr;133(4):383-5. doi: 10.1001/archpedi.1979.02130040037008.

4q- syndrome.

American journal of diseases of children (1960)

P L Townes, M White, S V Di Marzo

PMID: 433854 DOI: 10.1001/archpedi.1979.02130040037008

Abstract

To our knowledge, there have been three prior reports of patients found, with trypsin-Giemsa banding, to be monosomic for the terminal q segment of chromosome 4. Described herein is a fourth patient with this chromosome abnormality. Comparison of these four patients suggests a characteristic phenotype in the 4q- syndrome: cleft palate, satyr deformity of the pinnae, snub nose, retrognathia and micrognathia, hypertelorism, oropharyngeal hypothonia or upper airway obstruction, cardiac defect, clinodactyly of the fifth fingers with absence of a flexion crease, simian lines, displaced or clinodactylous toes, and mental retardation. In the three prior reports, the 4q- syndrome resulted from a de novo deletion. In the present case, the 4q monosomy was inherited from the father, who had a 4;20 translocation.

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MeSH terms

• Abnormalities, Multiple / genetics
• Adult
• Autopsy
• Chromosome Aberrations / diagnosis
• Chromosome Disorders
• Chromosomes, Human, 4-5*
• Female
• Humans
• Infant, Newborn
• Male
• Pregnancy
• Syndrome
• Translocation, Genetic

Publication Types

• Case Reports
• Journal Article