Klinefelter Syndrome

Klinefelter Syndrome - Diagnosis

How is Klinefelter syndrome diagnosed?

The diagnosis of Klinefelter syndrome is made by looking at the complete set of chromosomes of the individual. This is called a karyotype. A karyotype shows the number and visual appearance of the chromosomes found in the cells of a person.

Before birth
Diagnosis of Klinefelter syndrome can be made by taking a sample of amniotic fluid, or other foetal tissue, to look at the foetal karyotype.
After birth
Diagnosis of Klinefelter syndrome is confirmed by taking a sample of blood or other tissue to obtain a karyotype.

Karyotype showing Klinefelter syndrome

karyotype showing Klinefelter Syndrome | SingHealth

Article contributed by SingHealth Duke-NUS Genomic Medicine Centre

The information provided is not intended as medical advice. Terms of use. Information provided by SingHealth

Clin Assoc Prof Tan Ee Shien

Senior Consultant

MBBS, MRCPCH (UK)

Dr Ting Teck Wah

Senior Consultant

MBBS, MRCPCH (UK)

Assoc Prof Saumya Shekhar Jamuar

Senior Consultant

MBBS, MRCPCH (UK), FAMS, FACMG

Clin Assoc Prof Angeline Lai Hwei Meeng

Senior Consultant

MBBS, MRCP (UK) (Paed)

Prof Ivy Ng Swee Lian

Senior Consultant

MBBS, MMed (Paed), FRCP Edin, FRCPCH, FAMS

Dr Nikki Fong

Consultant

MBBS, MMed (Paed) (Spore), MRCPCH (Paed) (RCPCH, UK)

Dr Jeannette Goh

Consultant

MBBS (UK), BSc (Medical Sciences with Medical Genetics) (UK), Master of Medicine (Paediatric Medicine), MMed (Paeds) (Spore), Membership of Paediatrics and Child Health, MRCPCH (UK)

Dr Koh Ai Ling

Consultant

MB ChB (Edinburgh, UK), MRCPCH (RCPCH, UK), M Med (Paed) (Spore)

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