Biomaterial Database

Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. 1993

C Stoll, and D Chognot, and A Halb, and J C Luckel

Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.

Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D009030	Mosaicism	The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D002899	Chromosomes, Human, Pair 9	A specific pair of GROUP C CHROMSOMES of the human chromosome classification.	Chromosome 9
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
D006130	Growth Disorders	Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.	Stunted Growth,Stunting,Disorder, Growth,Growth Disorder,Growth, Stunted,Stuntings
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
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