Table 1 Clinical findings in partial reported cases with isolated partial trisomy 13q

Krygier et al. [6]

12/F

13q31.1qter

/

Learning difficulties, poor speech, facial dysmorphism, seizures, slightly developmental delay

Atack et al. [18]

12/M

13q31.1q32.3

Paternal

Developmental delay, learning disability, facial dysmorphic

Mathijssen et al. [19]

2.5/M

13q21.31q31.1

Maternal

Intellectual disability, developmental delay, dental abnormality, feeding problem, seizures, strabismus, behaviour problem

Mehra et al. [20]

7/M

13q13qter

Maternal inv(13)(p12q31)

Intellectual disability, developmental delay, learning disability, facial dysmorphic

Fraccaro et al. [21]

4/F

13q21q33.3

De novo

Trigonocephaly, low hair implantation, facial dysmorphic, bilateral clinodactyly of the fifth toes, psychomotor retardation

Habedank et al. [22]

10/M

13q22qter

Maternal inv(13)(p11q21)

Psychomotor retardation, spastic diplegia of the legs, and myoclonic and akinetic seizures, facial dysmorphic, abnormal fingers and toes

Williamson et al. [23]

34/F

13q22qter

Presumptive paternal inv(13)(p11q22)

Short stature, mentally retarded with ptosis, cleft soft palate, and polydactyly

Machado et al. [24]

Newborn/F

13q14qter

De novo

Cyanosis, hydropsy, hypotony, akinesia, and abdomen distension, short neck, and facial dysmorphism

Chen et al. [25]

Fetus

13q14.1qter

Paternal inv(13)(p12q14.1)

Intrauterine growth restriction and oligohydramnios, craniofacial dysmorphism, and camptodactyly of the right hand, bilateral subependymal cysts, left renal hydronephrosis, dilated coronary sinus with a persistent left superior vena cava, mild prominence of the left temporal horn

This study

(Patient 1)

8/F

13q14.11qter

Paternal inv(13)(p12q14.1)

Intellectual disability, motor and speech developmental delay, feeding problem, gastric perforation, seizures