Is microcephaly a so-far unrecognized feature of XYY syndrome?

Area of Science:

• Genetics
• Pediatrics
• Neonatology

Background:

• 47,XYY syndrome is a frequent sex chromosome aneuploidy.
• 47,XXY (Klinefelter syndrome) presents with characteristic symptoms.
• Microcephaly is a significant congenital condition requiring differential diagnosis.

Purpose of the Study:

• To provide an overview of 47,XYY syndrome.
• To describe the characteristic symptoms associated with 47,XXY.
• To report the first case of 47,XYY syndrome combined with microcephaly in a preterm infant.
• To briefly discuss the differential diagnosis of microcephaly.

Main Methods:

• Literature review for 47,XYY and 47,XXY.
• Case report of a preterm infant with 47,XYY and microcephaly.
• Differential diagnosis of microcephaly.

Main Results:

• 47,XYY syndrome is a common sex chromosome aneuploidy.
• Characteristic symptoms of 47,XXY are outlined.
• The first documented case of 47,XYY and microcephaly in a preterm child is presented.
• Key differential diagnoses for microcephaly are discussed.

Conclusions:

• This study provides insights into 47,XYY and 47,XXY syndromes.
• The case highlights a rare co-occurrence of 47,XYY and microcephaly in preterm neonates.
• Understanding the differential diagnosis of microcephaly is crucial in neonatal care.