OBJECTIVETo establish a profile of the causes of apparently unexplained SS in genetic referral center and evaluate the current referral system.

METHODSThis was a retrospective database survey on patients who were referred our clinical genetic service from 1988 - 1998 primarily because of SS. We retrieved the study population from our computer database using "short stature"as a search handle and then studied the demographic, clinical and laboratory data from their medical records.

RESULTSThree hundred and fifty-three subjects were referred for genetic evaluation of SS in 1988 - 1998. The mean age of referred subjects was 11.5 years and the female to male ratio was 7.6. All referrals had undergone cytogenetic studies to exclude chromosomal abnormalities, 19% of girls with apparently unexplained short stature had Turner syndrome; at least 47.9% of the study population were normal variants and 25% of the referrals had inadequate information for classification.

CONCLUSIONSGenetic investigation is essential in the management of patients with SS, especially for girls suspected of having Turner syndrome, in which growth hormone treatment has shown to improve final height. We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short stature, and discussed the drawbacks of the current referral system.

Child ; Databases as Topic ; statistics & numerical data ; Family Health ; Female ; Growth Disorders ; diagnosis ; epidemiology ; genetics ; Hong Kong ; epidemiology ; Humans ; Karyotyping ; Male ; Referral and Consultation ; statistics & numerical data ; Retrospective Studies ; Turner Syndrome ; genetics

BACKGROUNDDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy (DMD/BMD), and to study genotype-phenotype correlation.

METHODSA retrospective review of 67 patients.

RESULTSTwenty-three (34.3%) patients had exon deletions; whereas 5 (7.5%) patients had exon duplications. Twenty-three (34.3%) patients had small mutations, including 17 point mutations and 6 small insertions or deletions. No correlation was found between the type of mutation and the muscle phenotype or mental retardation. Significantly fewer maternal carriers were found in patients with exon deletions, and a positive family history was more common in those with small mutations. DMD phenotype was significantly less common in patients with exon deletions/duplications at the 5' hotspot, whereas all 4 small mutations associated with mental retardation were located in the 3' end of the gene.

CONCLUSIONSThe percentage of DMD exon deletions in local Chinese patients was significantly lower than the commonly quoted 60%. This indicated an ethnic or regional difference in predisposition to DMD exon deletions.

Asian Continental Ancestry Group ; Dystrophin ; genetics ; Exons ; Genotype ; Heterozygote ; Humans ; Intellectual Disability ; genetics ; Muscular Dystrophy, Duchenne ; genetics ; Mutation ; Phenotype ; Polymerase Chain Reaction

Abnormalities, Multiple ; genetics ; Amino Acid Sequence ; Blepharophimosis ; genetics ; Blepharoptosis ; genetics ; Eyelids ; abnormalities ; Female ; Forkhead Box Protein L2 ; Forkhead Transcription Factors ; genetics ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Syndrome

We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study. Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, intellectual disability and primary hypoparathyroidism.
Adult ; Delayed Diagnosis ; DiGeorge Syndrome ; diagnosis ; genetics ; Female ; Humans ; Hypocalcemia ; diagnosis ; genetics

Homeodomain Proteins ; genetics ; Humans ; Infant, Newborn ; Male ; Mutation ; Promoter Regions, Genetic ; Sleep Apnea, Central ; congenital ; genetics ; Syndrome ; Transcription Factors ; genetics