A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency

Keyphrases

• Growth Hormone Deficiency 100%
• Intellectual Disability 100%
• Short Stature 100%
• Cleft Palate 100%
• Hearing Impairment 100%
• Interstitial Deletion 100%
• X-linked Intellectual Disability 100%
• Long Arm 50%
• Gene Mapping 50%
• Array Comparative Genomic Hybridization (aCGH) 50%
• Chromosome X 50%
• Cartilage Development 50%
• POU3F4 50%
• TBX22 50%
• Rare Cause 50%
• Maternally Inherited 50%
• Dysmorphic Facial Features 50%
• ITM2A 50%
• X-linked Deafness 50%
• BRWD3 50%

Medicine and Dentistry

• Growth Hormone Deficiency 100%
• Cleft Palate 100%
• Hearing Impairment 100%
• Short Stature 66%
• X-Linked Intellectual Disability 66%
• Arm 33%
• Clinical Finding 33%
• Case Presentation 33%
• Facies 33%
• Array Comparative Genomic Hybridization 33%
• Gene Map 33%
• X Chromosome 33%

Biochemistry, Genetics and Molecular Biology

• Bovine Somatotropin 100%
• Intellectual Disability 100%
• Growth Hormone 100%
• Body Height 50%
• Array Comparative Genomic Hybridization 25%
• X Chromosome 25%
• TBX22 25%
• Gene Mapping 25%