Resumen

SIERRA AVENDANO, Jairo Alonso; BELTRAN QUINTERO, Maria Luisa; CONTRERAS GARCIA, Gustavo Adolfo  y  CHACON VALENZUELA, Daniella. 7q35 terminal deletion syndrome. Arch Venez Puer Ped [online]. 2014, vol.77, n.4, pp.185-189. ISSN 0004-0649.

7q terminal deletion syndrome is due to a loss of the distal portion of the long arm of chromosome 7; it is variable and depends on the size of the compromised region. Its clinical spectrum is wide and includes several anatomic systems. Case report: The patient is an eightyear- old girl who shows neurodevelopmental delay, absence of speech, cupped ears with overfolding helix, retrognathia, prominent incisors with gingival hyperplasia, dental malocclusion, umbilical hernia and clubfoot. The G-banding karyotype (25 metafases analyzed, 550-600 bands) reported: 46, XX, del (7) (q35), 46, XX, del (7) (pter → q35:). Phenotypic alterations differ due to chromosomal breakpoints. We compare clinical findings of the patient with case reports published in the worldwide literature. It is important to establish a clinical characterization and to perform molecular and cytogenetic studies in order to have a well-timed diagnosis and prescribe preventive management and genetic counseling.

Palabras clave : chromosomal aberrations; congenital abnormalities; chromosome 7; chromosome deletion; cognition disorders.

        · resumen en Español     · texto en Español     · Español ( pdf )