Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

Koza, Sylvia A.; Tabet, Anne Claude; Bonaglia, Maria Clara; Andres, Stephanie; Anderlid, Britt‐Marie; Aten, Emmelien; Stiefsohn, Dominique; Evans, D Gareth; Ravenswaaij-Arts, Conny M. A. van; Kant, Sarina G.

doi:10.1016/j.ejmg.2023.104773

European Journal of Medical Genetics

2023

DOI: 10.1016/j.ejmg.2023.104773

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Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

Sylvia A. Koza

Anne Claude Tabet

Maria Clara Bonaglia

et al.

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Cited by 7 publications

References 53 publications

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Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

Macke,

Miller,

Colwell

et al. 2024

American J of Med Genetics Pt A

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Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin‐2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains 3 (SHANK3), indicative of Phelan‐McDermid syndrome. Further analysis via traditional karyotyping, Optical Genome Mapping (OGM), and PacBio long‐read sequencing revealed a more complex landscape of chromosomal rearrangements in this individual, including a balanced 3;12 translocation, and an unbalanced 17;22 translocation. The proband's phenotypic presentation is thought to be the result of Phelan‐McDermid syndrome and represents an expansion of the described phenotypes to include significant respiratory failure. This study underscores the challenges and importance of comprehensive genetic testing in elucidating complex presentations and highlights the need for complementary testing methods to overcome limitations in resolution.

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Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

Macke,

Miller,

Colwell

et al. 2024

American J of Med Genetics Pt A

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Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants

McCoy,

Sarasua,

DeLuca

et al. 2023

Pediatr Nephrol

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Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome

Ravenswaaij-Arts

Balkom

Jesse

et al. 2023

European Journal of Medical Genetics

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Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

Cited by 7 publications

References 53 publications

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants

Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome

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