Revisiting recombinant 8 syndrome

• Published in: American journal of medical genetics. Part A Vol. 155A; no. 8; pp. 1923 - 1929
• Main Authors: Pickler, Laura, Wilson, Rebecca, Tsai, Anne C-H
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.08.2011; Wiley-Liss
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - psychology; Abnormalities, Multiple - therapy; Adolescent; Adult and adolescent clinical studies; Age; Biological and medical sciences; Child; Child, Preschool; chromosome 8; chromosome abnormality; Chromosome Disorders - genetics; Chromosome Disorders - psychology; Chromosome Disorders - therapy; Chromosomes; Chromosomes, Human, Pair 8 - genetics; clinical; Cognitive ability; development; Female; Heart; Heart Defects, Congenital - surgery; Humans; Intellectual deficiency; intellectual disability; Intellectual Disability - genetics; Inversion; Learning; Male; Medical genetics; Medical sciences; Morbidity; Mortality; Orthopedics; pericentric inversion; Preservation; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Quality of life; recombinant; spasticity; Surgery; Survival; Young Adult; Chromosomal aberration; Handicap; recombinant; Developmental disorder; Mental retardation; Chromosome C8; chromosome abnormality; clinical; Chromosome 8; Pericentric inversion; Intellectual deficiency; Development; Abnormal chromosome; intellectual disability
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.34104

Recombinant 8 syndrome, also known as San Luis Valley syndrome, is a rare but important cause for developmental delay and chronic illness noted among individuals of Hispanic ancestry that occurs with greater reported frequency in the Southwest United States. The recombinant chromosome is rec(8)dup(8q)inv(8)(p23.1q22.1) and in all known cases is derived by a parental pericentric inversion, inv(8)(p23.1q22.1). To test our hypothesis that modern medical management strategies may alter the outcome of patients with recombinant 8 syndrome in regard to mortality, morbidity, and neurodevelopmental outcomes, we sought to update the natural history of recombinant 8 syndrome by completing a thorough medical and psychological assessment of affected individuals. Twelve affected individuals, ranging from 2 to 21 years of age, were recruited with IRB approval. Our patients scored on in the mild to severe cognitive functioning level (range 30–70), with surprising preservation in the social/adaptive arenas. Most patients responded well to heart surgery and developmental outcomes were in proportion to cardiac status. Orthopedic surgery to ameliorate effects of spasticity can be complicated by long recovery times and decreased ability to ambulate. Our findings do not support additional morbidly during cardiac repair. Taken together, our findings support a consistent phenotype with improved survival in comparison to previously published studies. Efforts to encourage learning and developmental progress should not be withheld as quality of life for many of these individuals is considered good by their families and medical providers. © 2011 Wiley‐Liss, Inc.