Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10,000 babies are born with Prader-Willi syndrome. [natera.com]

Possible relationships between the hypogam-maglobulinemia and monosomy 21q, and between the SRS phe-notype and partial trisomy 7q are discussed.A 6-month-old Turkish boy was referred to the hospital forsevere pneumonia and dysmorphic features. [documents.tips]

High-resolution physical and transcriptionalmapping of the autoimmune polyendocrinopathy-candidiasis-ectoder-mal dystrophy locus on chromosome 21q22.3 by FISH. [documents.tips]

To Thrive Heredity Deletions Include Q11-1, Q11-1-Q22-1, Q11-2-Q21-3, Q21-1.2, Q22-1 And Q22-2 Nose Large Nose With A Broad Bridge And Epicanthic Folds Cardiovascular System Ventricular And Atrial Septal Defects Coarctation Of The Aorta Left Heart Hypoplasia [neo-genetics.com]

Different clinical man-ifestations, including dysmorphic features (hypertelorism, strabis-mus, wide open fontanels, epicanthus, frontal bossing, cleft palate,high-arched palate, and short neck), low birth weight, hypotonia,skeletal and kidney abnormalities [documents.tips]

[…] eye fold id id Blepharitis, conjunctivitis ND ND ND Brushfield spots (iris color) - (darks) id - Nystagmus - id - - - Flat nasal bridge(a) id Mouth permanently open - - - ND - Abnormal teeth - Protruding tongue (macroglossia) - - ND - Furrowed tongue High-arched [publications.fondationlejeune.org]

Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are probably linked to the duplication of genes proximal to COL6A1. [publications.fondationlejeune.org]

[…] of the ears chr21:13045202-33522318 20.48 217 (76) Unknown Pathogenic ECARUCA#4777 16 Mental retardation, seizures/abnormal EEG (e), short stature, prominent maxilla, dislocation of hip, atrial septum defect chr21:14166659-20412272 6.25 66 (13) De novo [molecularcytogenetics.biomedcentral.com]

- Clinical Manifestations of Down Syndrome in Patients TY, LI, and AL TY LI AL Birth Age 9 years Age 15 d r Age 16 mo Age 26 years Jackson's checklist: Brachycephaly(a) id id Oblique eye fissure(a) id id Epicanthic eye fold id id Blepharitis, conjunctivitis [publications.fondationlejeune.org]

fifth finger (right, left) , id -,- -,- id Incurved fifth finger (right, left)(a) , id -,- -,- id Transverse palmar crease (right, left) -,- id -,- -, id Gap between first and second toes (right, left)(a) , id , , id Congenital heart defect (type) - [publications.fondationlejeune.org]

Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are probably linked to the duplication of genes proximal to COL6A1. [publications.fondationlejeune.org]

In primary school she was noted to have learning difficulties associated with dyslexia and dyscalculia. [molecularcytogenetics.biomedcentral.com]

The evaluation by DSM-IV (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition) documented a psychotic disorder with persecutory delusion. [molecularcytogenetics.biomedcentral.com]

Indeed, attenuated phenotypes, such as poor social interactions, may be easily neglected and further genetic analyses are undertaken only when a suggestive familiar history is clearly ascertained. [molecularcytogenetics.biomedcentral.com]

The neurological evaluation revealed mild postural hand tremor and altered saccadic eye movements. [molecularcytogenetics.biomedcentral.com]

The neurological evaluation revealed mild head tremor and postural hand tremor. The Nuclear Magnetic Resonance (NMR) documented a periventricular white matter hyperintensity and enlarged cisterna magna. [molecularcytogenetics.biomedcentral.com]