ArticleMolecular cytogenetics2014
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology.Frontiers in endocrinology · 2024Pooled it
- Two Cases of Late Diagnosis Pituitary Stalk Interruption Syndrome and Literature Review.International medical case reports journal · 2025Article
- Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.Case reports in genetics · 2024Article
- Pituitary Stalk Interruption Syndrome with Excessive Height Growth Combined with Congenital Absence of the Uterus and Ovaries: A Rare Case Report and Review of the Literature.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- A rare case of 2q37 deletion syndrome presented with patent foramen ovale.Clinical case reports · 2023Article
- Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms.World journal of gastroenterology · 2020Review
- Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency.International journal of molecular sciences · 2020Article
- 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.Annals of pediatric endocrinology & metabolism · 2017Article
- Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.The Journal of clinical endocrinology and metabolism · 2015Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a male child ascertained at 4.8 years of age with severe growth failure, growth hormone (GH) deficiency, psychomotor delay with prevalent speech impairment, and a distinct phenotype. An evaluation of his hypothalamic-pituitary region by Magnetic Resonance Imaging (MRI) revealed pituitary hypoplasia with pituitary stalk interruption and ectopic posterior pituitary lobe, which are considered prognostic markers of permanent GH deficiency. Prenatal chromosome analysis because of increased nuchal translucency revealed a normal male karyotype, whereas postnatal high resolution banding raised the suspicion of a 2q abnormality. Subsequently, array Comparative Genomic Hybridization (array-CGH) revealed a de novo complex genomic rearrangement consisting of a 2p25 duplication and a 2q37 deletion: arr[hg19] 2p25.3p25.1(30,341-9,588,369)x3,2q37.2q37.3(235,744,424-243,041,305)x1. FISH analysis showed that the abnormal chromosome 2 mimicked the derivative of an inversion with the duplicated 2p region located distally at 2q. This is, to the best of our knowledge, the first case with distal 2p25 duplication and 2q37 deletion and pituitary malformation leading to GH deficiency.
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