Terkko Navigator / Clinical Dysmorphology

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.

Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures.

A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome.

X-Autosome translocations: X-inactivation and effect on phenotype.

Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay.

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

CK syndrome: a rare cause of developmental delay in a young boy.

Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient.

First case of Myhre syndrome with schizophrenia.

Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups.

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.

Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures.

A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome.

X-Autosome translocations: X-inactivation and effect on phenotype.

Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay.

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

CK syndrome: a rare cause of developmental delay in a young boy.

Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient.

First case of Myhre syndrome with schizophrenia.

Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups.

Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.

Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries.

Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletion.

A proximal 300kb deletion further defining critical regions in 4q25 syndrome.

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.

KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.

Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly.

A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type.

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).

Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy.

Rare case of dual diagnosis in consanguineous family: a case report.

Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.

Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries.

Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletion.

A proximal 300kb deletion further defining critical regions in 4q25 syndrome.

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.

KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.

Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly.

A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type.

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).

Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy.

Rare case of dual diagnosis in consanguineous family: a case report.

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?.

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.