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Guy Bradley-Smith

, Sally Hope

, Helen v. Firth

, and Jane A. Hurst

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date: 18 October 2021

Introduction 292

Chromosome anomalies 293

Down syndrome (trisomy 21) 294

Klinefelter syndrome (47,XXY) 298

Rare chromosomal disorders 302

Translocations 306

Triple X syndrome (47,XXX) 310

Turner syndrome (45,X and variants) 312

47,XYY 316

Chromosomal disorders cover a huge spectrum from those that are benign and have no implications for health except with regard to reproduction (e.g. many balanced translocations) to those that cause profound developmental delay. Some have only mild or minimal effects on health, and frequently remain undiagnosed (e.g. XYY), whereas others cause multiple congenital anomalies and severe limitation of lifespan (e.g. trisomy 18). In order to communicate sensitively and effectively with patients and their families it is important to know where in this spectrum the chromosome disorder that affects your patient/family lies. The sections in this chapter are designed to provide the necessary information. The following may be helpful sources of additional information: ...

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