Journal of medical genetics, 2001-07, Vol.38 (7), p.493-496
2001
Details
- Autor(en) / Beteiligte
- Titel
- Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder
- Ist Teil von
- Journal of medical genetics, 2001-07, Vol.38 (7), p.493-496
- Ort / Verlag
- London: BMJ Publishing Group Ltd
- Erscheinungsjahr
- 2001
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0022-2593, 1468-6244eISSN: 1468-6244DOI: 10.1136/jmg.38.7.493Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1757176
- Format
- –
- Schlagworte
- 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