Multiple congenital anomalies associated with a 47,XXX chromosome constitution. 1990

O J Hood, and E A Hartwell, and K E Shattuck, and H S Rosenberg
Department of Pediatrics, University of Texas Health Science Center, Houston 77030.

An infant with a 47,XXX chromosome constitution, who died shortly after birth, had laryngeal atresia, pulmonary hypoplasia, craniofacial anomalies, urogenital malformations including unilateral renal agenesis, hydrometrocolpos and ovarian dysgenesis, and mildly abnormal endochondral ossification. Implications for genetic counseling are presented.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007830 Larynx A tubular organ of VOICE production. It is located in the anterior neck, superior to the TRACHEA and inferior to the tongue and HYOID BONE. Anterior Commissure, Laryngeal,Anterior Commissure, Larynx,Laryngeal Anterior Commissure,Laryngeal Posterior Commissure,Posterior Commissure, Laryngeal,Posterior Commissure, Larynx,Anterior Commissures, Laryngeal,Anterior Commissures, Larynx,Commissure, Laryngeal Anterior,Commissure, Laryngeal Posterior,Commissure, Larynx Anterior,Commissure, Larynx Posterior,Commissures, Laryngeal Anterior,Commissures, Laryngeal Posterior,Commissures, Larynx Anterior,Commissures, Larynx Posterior,Laryngeal Anterior Commissures,Laryngeal Posterior Commissures,Larynx Anterior Commissure,Larynx Anterior Commissures,Larynx Posterior Commissure,Larynx Posterior Commissures,Posterior Commissures, Laryngeal,Posterior Commissures, Larynx
D008168 Lung Either of the pair of organs occupying the cavity of the thorax that effect the aeration of the blood. Lungs
D005147 Facial Bones The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113) Bone, Facial,Bones, Facial,Facial Bone
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D012729 Sex Chromosome Aberrations Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. Sex Chromosome Abnormalities,Abnormalities, Sex Chromosome,Chromosome Abnormalities, Sex,Aberration, Sex Chromosome,Aberrations, Sex Chromosome,Abnormality, Sex Chromosome,Chromosome Aberration, Sex,Chromosome Aberrations, Sex,Chromosome Abnormality, Sex,Sex Chromosome Aberration,Sex Chromosome Abnormality
D012886 Skull The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN. Calvaria,Cranium,Calvarium,Skulls
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial

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