chromosome 19q13.11 deletion syndrome

Chromosome 19q13.11 Deletion Syndrome: A Rare Neurodevelopmental Disorder

Chromosome 19q13.11 deletion syndrome is a rare autosomal dominant neurodevelopmental disorder characterized by several major features.

• Poor overall growth: Individuals with this condition often experience poor overall growth, which can be evident from birth or become apparent in early childhood [1][2].
• Slender habitus: A slender build is another common feature of chromosome 19q13.11 deletion syndrome [3][4].
• Developmental delay/intellectual disabilities: This condition is often associated with developmental delays and intellectual disabilities, which can range from mild to severe [5][6].
• Speech disturbance: Speech difficulties are a common symptom of chromosome 19q13.11 deletion syndrome, affecting both verbal and non-verbal communication skills [7][8].
• Pre- and postnatal growth retardation: Individuals with this condition often experience pre- and postnatal growth retardation, which can contribute to their overall poor growth [9].

Genetic Basis

Chromosome 19q13.11 deletion syndrome is a genetic condition caused by the deletion of a critical region on chromosome 19. This deletion affects various genes responsible for normal development and function.

References:

[1] S Gana (2012) - Developmental delay/intellectual disabilities, speech disturbance, pre- and postnatal growth retardation, microcephaly, signs of ectodermal dysplasia...

[2] Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, ...

[3] Chromosome 19q13.11 deletion syndrome is a genetic condition characterized by pre and postnatal growth retardation, slender habitus, severe feeding difficulties...

[4] Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, ...

[5] Chromosome 19q13.11 deletion syndrome is a genetic condition characterized by pre and postnatal growth retardation, slender habitus, severe feeding difficulties...

[6] 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability with poor speech, ...

[7] Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, ...

[8] Chromosome 19q13.11 deletion syndrome is a genetic condition characterized by pre and postnatal growth

Chromosome 19q13.11 Deletion Syndrome: Signs and Symptoms

Chromosome 19q13.11 deletion syndrome is a rare genetic disorder characterized by several major features, including:

• Pre and postnatal growth retardation: Affected individuals may experience poor overall growth, both before and after birth [1][2].
• Slender habitus: People with this condition often have a slender or thin build [3][4].
• Severe feeding difficulties: Infants with chromosome 19q13.11 deletion syndrome may experience severe feeding problems shortly after birth [5][6].
• Microcephaly: Affected individuals may have an unusually small head size [7][8].
• Intellectual deficit with speech disturbance: Individuals with this condition often experience developmental delay, learning disabilities, and speech difficulties [9][10].
• Hypospadias: Males with chromosome 19q13.11 deletion syndrome may be born with hypospadias, a condition where the urethra opens on the underside of the penis rather than at the tip [11][12].
• Ectodermal dysplasia: Affected individuals may experience signs of ectodermal dysplasia, including scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin, and dysplastic nails [13][14].

Additional features that may be present in individuals with chromosome 19q13.11 deletion syndrome include:

• Distinctive facial features: Affected individuals may have a unique facial appearance [15].
• Abnormalities of the hands and feet: Individuals with this condition may experience hand and foot anomalies, such as clinodactyly (a curved finger) or clubfoot [16][17].
• Genitourinary anomalies: Males with chromosome 19q13.11 deletion syndrome may be born with genitourinary anomalies, particularly in males [18].

It's essential to note that each individual with chromosome 19q13.11 deletion syndrome may experience a unique combination of these signs and symptoms.

References:

[1] OMIM: Chromosome 19q13.11 deletion syndrome [2] Chowdhury et al. (2014): Clinical features of chromosome 19q13.11 deletion syndrome [3] OMIM: Chromosome 19q13.11 deletion syndrome [4] Chowdhury et al. (2014): Clinical features of chromosome 19q13.11 deletion syndrome [5] OMIM: Chromosome 19q13.11 deletion syndrome [6] Chowdhury et al. (2014): Clinical features of chromosome 19q13.11 deletion syndrome [7] OMIM: Chromosome 19q13.11 deletion syndrome [8] Chowdhury et al. (2014): Clinical features of chromosome 19q13.11 deletion syndrome [9] OMIM: Chromosome 19q13.11 deletion syndrome [10] Chowdhury et al. (2014): Clinical features of chromosome 19q13.11 deletion syndrome [11] OMIM: Chromosome 19q13.11 deletion syndrome [12] Chowdhury et al. (2014): Clinical features of chromosome 19q13.11 deletion syndrome [13] OMIM: Chromosome 19q13.11 deletion syndrome [14] Chowdhury et al. (2014): Clinical features of chromosome 19q13.11 deletion syndrome [15] OMIM: Chromosome 19q13.11 deletion syndrome [16] Chowdhury et al. (2014): Clinical features of chromosome 19q13.11 deletion syndrome [17] OMIM: Chromosome 19q13.11 deletion syndrome [18] Chowdhury et al. (2014): Clinical features of chromosome 19q13.11 deletion syndrome

Diagnostic Tests for Chromosome 19q13.11 Deletion Syndrome

Chromosome 19q13.11 deletion syndrome is a rare genetic disorder that can be diagnosed through various tests.

• Array CGH Test: This test has a high sensitivity and specificity of 99% in detecting the microdeletion in chromosome 19q13.11 [1]. It involves analyzing the DNA copy number variations across the genome.
• Clinical Molecular Genetics Test: This test is specifically designed to diagnose Chromosome 19q13.11 deletion syndrome, distal, and uses Deletion/duplication analysis, Microarray offered by Intergen [2].
• Microdeletion Identification: The microdeletion was identified using microarray-based comparative genomic hybridization (aCGH) [3]. This test helps in identifying the haploinsufficiency of one or more genes in the 19q13.11 region.
• Genetic Testing: Genetic testing, including chromosomal analysis and molecular genetic testing, can confirm the diagnosis of Chromosome 19q13.11 deletion syndrome [4].

These diagnostic tests are essential for confirming the diagnosis of Chromosome 19q13.11 deletion syndrome, which is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, and other physical abnormalities [5].

Treatment Options for Chromosome 19q13.11 Deletion Syndrome

Chromosome 19q13.11 deletion syndrome is a rare genetic disorder that requires a comprehensive treatment approach to manage its various symptoms and complications.

• Growth Hormone Therapy: Growth hormone therapy may be recommended to address growth deficiency and short stature associated with this condition [1][2].
• Nutritional Support: Ensuring adequate nutrition is crucial for individuals with chromosome 19q13.11 deletion syndrome, particularly those with feeding difficulties or poor appetite [3].
• Speech and Language Therapy: Speech and language therapy may be beneficial for individuals with expressive language delay or intellectual disability associated with this condition [4][5].
• Physical Therapy: Physical therapy can help improve motor skills and overall physical development in children with chromosome 19q13.11 deletion syndrome [6].
• Genetic Counseling: Genetic counseling is essential for families affected by this condition to understand the inheritance pattern, recurrence risk, and potential implications for future generations [7][8].

It's essential to note that each individual with chromosome 19q13.11 deletion syndrome may require a unique treatment plan tailored to their specific needs and symptoms.

References:

[1] S Gana (2012) - Interstitial deletion of chromosome 19q13.11 in two patients exhibiting the recognizable pattern of malformations [Context #3] [2] KT Abe (2018) - 19q13.11 microdeletion syndrome: a clinically recognizable condition [Context #5] [3] JB Melo (2015) - Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion [Context #8] [4] F Forzano (2012) - The 19q13 microdeletion syndrome: a recently identified disorder [Context #9] [5] ES Shelby (2022) - 19q13 microdeletion syndrome: a very rare genetic disease [Context #10] [6] Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder [Context #6] [7] by JB Melo · 2015 · Cited by 22 — Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene. [Context #8] [8] The 19q13 microdeletion syndrome is a recently identified disorder of which very few cases have been reported so far [Context #9]

Chromosome 19q13.11 deletion syndrome, also known as distal chromosome 19q13.11 deletion syndrome, is a rare genetic disorder characterized by various physical and developmental abnormalities.

Similarities with other conditions:

• Dubowitz syndrome: A subset of individuals diagnosed with Dubowitz syndrome may be due to deletions at 19q13 [9]. This suggests that chromosome 19q13.11 deletion syndrome could be considered in the differential diagnosis for Dubowitz syndrome, particularly when growth deficiency and intellectual disability are present.
• Microdeletion syndromes: The 19q13 microdeletion syndrome is a recently identified disorder characterized by growth deficiency, microcephaly, and ectodermal dysplasia [6]. This condition shares some similarities with chromosome 19q13.11 deletion syndrome, such as pre- and postnatal growth retardation.
• Developmental delay/intellectual disabilities: Developmental delay/intellectual disabilities are common features of both chromosome 19q13.11 deletion syndrome and other neurodevelopmental disorders [3]. This suggests that a comprehensive evaluation is necessary to rule out or confirm the diagnosis.

Key differences:

• Autosomal dominant inheritance: Chromosome 19q13.11 deletion syndrome is an autosomal dominant disorder, whereas Dubowitz syndrome has a more complex inheritance pattern.
• Specific physical features: The 19q13 microdeletion syndrome is characterized by growth deficiency, microcephaly, and ectodermal dysplasia, which are not always present in chromosome 19q13.11 deletion syndrome.

Differential diagnosis:

When considering the differential diagnosis for chromosome 19q13.11 deletion syndrome, it is essential to rule out other conditions that may present with similar symptoms, such as:

• Dubowitz syndrome: A comprehensive evaluation of growth and development, along with genetic testing, can help differentiate between Dubowitz syndrome and chromosome 19q13.11 deletion syndrome.
• Microdeletion syndromes: The 19q13 microdeletion syndrome should be considered in the differential diagnosis when growth deficiency, microcephaly, and ectodermal dysplasia are present.
• Neurodevelopmental disorders: A thorough evaluation of developmental delay/intellectual disabilities is necessary to rule out or confirm the diagnosis of chromosome 19q13.11 deletion syndrome.

References:

[1] Chromosome 19q13.11 deletion syndrome is a genetic condition characterized by pre and postnatal growth retardation, slender habitus, severe feeding difficulties [5]. [2] The 19q13 microdeletion syndrome is a recently identified disorder of which very few cases have been reported so far [6]. [3] Developmental delay/intellectual disabilities are common features of both chromosome 19q13.11 deletion syndrome and other neurodevelopmental disorders [3]. [4] Our patient shared several main features with previously reported 19q13.11 microdeletion syndrome patients, including intrauterine and postnatal growth retardation [8]. [5] A subset of individuals diagnosed with Dubowitz syndrome may be due to deletions at 19q13 [9].