Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

• Published in: Journal of medical genetics Vol. 38; no. 7; pp. 493 - 496
• Main Authors: Baker, K L, Rees, M I, Thompson, P W, Howell, R T, Cole, T R, Hughes, H E, Upadhyaya, M, Ravine, D
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.07.2001; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adolescent; Attention Deficit Disorder with Hyperactivity - complications; Attention Deficit Disorder with Hyperactivity - genetics; Attention Deficit Disorder with Hyperactivity - physiopathology; Attention deficit disorders. Hyperactivity; Attention Deficit Hyperactivity Disorder; Biological and medical sciences; Birth weight; Child; Child clinical studies; Child, Preschool; Chromosome Breakage - genetics; Chromosome Deletion; Chromosomes; Chromosomes, Artificial, Yeast - genetics; Chromosomes, Human, Pair 2 - genetics; Complex syndromes; Female; Genes; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Joint Instability - complications; Joint Instability - genetics; Joint Instability - physiopathology; Letters to the Editor; Loss of Heterozygosity - genetics; Male; Medical genetics; Medical sciences; Microsatellite Repeats - genetics; Phenotype; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Human; Connective tissue disease; Long arm; Chromosome A2; Genetic disease; Case study; Paternal origin; Connective tissue; Phenotype; Attentional disorder; Gene; Laxity; Psychopathology; Mutation
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.38.7.493

Antich et al4 German et al1 1-150 Davis et al8 1-150 Present case Lucas et al5 1-150 Frydman et al6 1-150 Fryns et al2 McConnell et al3 Deletion q12-q14 q13-q21 q13-q21 q14.1-q21 q14-q21 q14-q21 q21-q24 q22-q31 Parental origin of deletion Unknown Unknown Paternal karyotype Paternal Unknown Unknown Unknown Unknown 46,XY, inv (9), t(2,7)(q32.2;p11) Sex M M F M F F F F Age 8 mth 1-151 30 mth 29 mth 1-151 17 y 11 mth 2 y 2 mth 1-151 Newborn 1-151 Birth weight (g) 2400 2790 4140 (97th centile) 3060 4900 2500 1500 Growth Failure to thrive Failure to thrive Poor weight gain (5th centile) Weight 40th centile; Failure to thrive Not applicable Linear growth normal (80th centile) Length 10th centile Developmental delay/ learning difficulties + (Severe) + (Severe) Mod learning difficulties Severe dev delay + (Severe) Not applicable Attention deficit disorder OFC Microcephaly Microcephaly Macrocephaly Macrocephaly Microcephaly Microcephaly Hydrocephalus Head circumference at birth 32 cm Head circumference at birth: 36 cm (>95th centile) Head circumference 90-97th centile Head circumference at birth 32.\n Haploinsufficiency involving one or more genes is a likely explanation for the observed phenotype. [...]this case provides some additional insights into the effects of haploinsufficiency arising from a deletion of paternal origin in the proximal region of the long arm of chromosome 2.