Genetic Deletions and Associated Syndromes

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Questions and Answers

Which unique clinical feature is associated with the 15q13.3 microdeletion syndrome?

Cat-like cry in infancy

Schizophrenia (correct)

Frequent laughter

Cholestasis

What clinical feature is linked to the Alagille syndrome?

Jerky arm movements

Ataxia

Abnormal hair color or texture

Cholestasis (correct)

Which of the following unique clinical features is NOT associated with the Angelman syndrome?

Jerky arm movements

Ataxia

Frequent laughter

Epicanthal folds (correct)

Which region is affected by the DiGeorge syndrome?

22q11.2 deletion Signup and view all the answers

Which syndrome is characterized by a 'cat-like cry in infancy'?

Cri du chat Signup and view all the answers

What is a unique clinical feature of the hereditary neuropathy with liability to pressure palsies (HNPP)?

Asymmetric recurrent palsies Signup and view all the answers

Which of the following regions is associated with abnormal hair color or texture?

17q21.3 Signup and view all the answers

Which genetic deletion is involved in both DiGeorge syndrome and a microduplication syndrome?

22q11.2 Signup and view all the answers

What unique clinical feature is associated with the Miller-Dieker syndrome?

Lissencephaly Signup and view all the answers

Which syndrome is associated with obesity and hyperphagia due to paternal deletion?

Prader-Willi syndrome Signup and view all the answers

What is the unique clinical feature of Rubinstein-Taybi syndrome?

Beaked nose Signup and view all the answers

Which deletion syndrome is characterized by a bulbous nose?

Langer-Giedion syndrome Signup and view all the answers

What clinical feature is NOT associated with the Prader-Willi syndrome?

Early puberty Signup and view all the answers

What characteristic is associated with the Wolf-Hirschhorn syndrome?

Hypospadias Signup and view all the answers

Which syndrome has the affected region of 17p11.2 and includes hyperactivity as a feature?

Smith-Magenis syndrome Signup and view all the answers

Which deletion syndrome is associated with bimanual synkinesis?

Kallmann syndrome Signup and view all the answers

Which genetic abnormality is linked with macroglossia and organomegaly?

Beckwith-Wiedemann Signup and view all the answers

What condition is formed due to a duplication at the 17p11.2 locus?

Charcot-Marie-Tooth 1A Signup and view all the answers

Which syndrome is characterized by streaks of hyper- and hypopigmentation?

Pallister-Killian Signup and view all the answers

What type of features are associated with the 17q21.3 duplication?

Variable dysmorphic features Signup and view all the answers

Which genetic duplication involves an extra pseudodicentric or ring chromosome?

Cat Eye Tetrasomy Signup and view all the answers

What common symptom is associated with Potocki-Lupski syndrome?

Failure to thrive Signup and view all the answers

Which condition presents with subtle hand and foot malformations?

17p13.3 Duplication Signup and view all the answers

What is a potential characteristic of the Cornelia de Lange-like phenotype linked with Duplication 3q?

Coarsening of the face with age Signup and view all the answers

What is a unique clinical feature of proximal 15q11.2 microduplication?

Decreased motor coordination Signup and view all the answers

Which of the following is associated with proximal 22q11.2 microduplication?

Absent thymus Signup and view all the answers

What do patients with (4;8) translocation clinically resemble?

Wolf-Hirschhorn syndrome Signup and view all the answers

What is a characteristic feature of pseudodicentric 15?

Behavioral disturbance Signup and view all the answers

What type of chromosome abnormality is related to tetrasomy 15?

Inverted duplication Signup and view all the answers

What is noted about the families with (8;22) translocation?

There are at least 12 families with a recurring case Signup and view all the answers

Which affected region is linked with decreased motor coordination?

Proximal 15q11.2 Signup and view all the answers

What is a common feature of individuals with the (4;8) translocation?

They are clinically similar to Wolf-Hirschhorn patients Signup and view all the answers

Study Notes

Deletions

15q13.3 Microdeletion affects the 15q13.3 region, associated with schizophrenia and autism.
17q21.3 Microdeletion shows complementary deletion with 17q21.2 duplication; unique features include abnormal hair color and texture, blepharophimosis, and epicanthal folds.
Alagille Syndrome, located at 20p12.2, features cholestasis, posterior embryotoxon, and peripheral pulmonic stenosis.
Angelman Syndrome results from maternal deletion of 15q11.2–15q13.1, characterized by frequent laughter, ataxia, and jerky arm movements.
Cri du chat Syndrome is due to deletions in the 5p region, manifested as a cat-like cry in infancy.
DiGeorge Syndrome involves a 22q11.2 deletion, leading to velopharyngeal incompetence, paired with proximal 22q11.2 microduplication.
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) results from a 17p11.2 deletion, causing asymmetric recurrent palsies.
Ichthyosis (X-linked) linked to Xp22.3 is marked by corneal opacities.
Jacobsen Syndrome is caused by deletions in 11q24.1–11qter, with strabismus as a key feature.
Kallmann Syndrome at Xp22.3 includes eunuchoid habitus and bimanual synkinesis.
Langer-Giedion Syndrome occurs within 8q24.11–8q24.13 and is noted for a bulbous nose.
Miller-Dieker Syndrome, located at 17p13.3, is identified by lissencephaly and bitemporal depression.
Monosomy 1p36 is characterized by early puberty, deafness, seizures, abnormal EEGs, and an enlarged anterior fontanel.
Phelan-Mcdermid Syndrome found at 22q13.3 shows dolichocephaly.
Potocki-Shaffer Syndrome is associated with 11p11.2, presenting with biparietal foramina and micropenis.
Prader-Willi Syndrome occurs due to paternal deletion of 15q11.2–15q13.1, leading to obesity related to hyperphagia and skin picking behavior.
Rubinstein-Taybi Syndrome is marked by a beaked nose, resulting from a deletion at 16p13.3.
Smith-Magenis Syndrome linked to 17p11.2 results in hyperactivity, sleep disturbances, and distinctive fingertip pads.
Sotos Syndrome caused by deletion in 5q35 is characterized by overgrowth.
Williams Syndrome, found at 7q11.23, involves supravalvular aortic stenosis and fetal stellate pattern features.
Wolf-Hirschhorn Syndrome linked to 4p exhibits characteristics such as hypospadias.

Duplications

7q11.23 Microduplication overlaps with 17q21.2 microdeletion, associated with diaphragmatic hernia.
17p13.3 Duplication shows subtle malformations in hands and feet.
17q21.3 Duplication complements 17q21.3 microdeletion syndrome, presenting variable dysmorphic features.
Beckwith-Wiedemann Syndrome is characterized by paternal duplication at 11p15.5, with macroglossia, organomegaly, and omphalocele.
Cat Eye Tetrasomy involves 22q11.2, typically resulting in coloboma of the iris and anal atresia due to an extra chromosome.
Charcot-Marie-Tooth 1A (CMT1A) is defined by 17p11.2 duplication, causing abnormal nerve conduction and muscle atrophy.
Duplication 3q manifests as a Cornelia de Lange-like phenotype with complex features.
Pallister-Killian Syndrome involves mosaic tetrasomy 12p, showing streaks of hyper- and hypopigmentation and facial coarsening with age.
Potocki-Lupski Syndrome results from 17p11.2 duplication, leading to failure to thrive and a triangular face.
Proximal 15q11.2 Microduplication affects coordination and deep tendon reflexes, relevant to Prader-Willi and Angelman syndromes.
Proximal 22q11.2 Microduplication corresponds with absent thymus causing T-cell deficiency, relevant to DiGeorge syndrome.
Pseudodicentric 15 involves tetrasomy 15pter–15q13, linked to behavioral disturbances and low-set ears.

Translocations

(4;8) Translocation occurs at 4p16 and 8p23, affecting 18 unrelated families, clinically similar to Wolf-Hirschhorn patients.
(8;22) Translocation involves breakpoints on 8q24.1 and 22q11.21, identified in at least 12 families exhibiting recurring features.

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Description

This quiz focuses on various genetic deletions and their corresponding syndromes, including Angelman Syndrome and DiGeorge Syndrome. Each deletion's unique features and implications on health are examined. Test your knowledge on these critical genetic conditions and their characteristics.